Trisomy 14 mosaicism: case report and review.
Johnson V P,Aceto T,Likness C
American journal of medical genetics
Complete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case of trisomy 14 mosaicism is reported. Comparisons are made with other trisomy 14, trisomy 14 mosaicism, and duplication 14q cases previously reported. As a group, they share some clinical manifestations. The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation. The present patient also has asthma, eczema, and developmental asymmetry.
Unusual phenotype in partial trisomy 14.
Lemire E G,Cardwell S
American journal of medical genetics
An 8-year-old boy with partial trisomy 14q and phenotype distinct from previously reported cases is described. The mother carries a balanced 9;14 reciprocal translocation. The patient presented with minor facial anomalies, developmental delay, hyperphagia, and obesity. Imprinting of maternal chromosome 14 or disruption of one or more genes on chromosome 9 may be responsible for our patient's manifestations.
Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings.
Sepulveda W,Monckeberg M J,Be C
The survival of infants with trisomy 14 mosaicism has been scarcely reported in the literature, with only 15 cases being documented up to 1992. We present a case of a dichorionic twin pregnancy in which prenatal sonography at 24 weeks' gestation showed that one of the twins had several anomalies including intrauterine growth restriction, alobar holoprosencephaly, a cleft lip and palate, a recessive chin, a small stomach, overlapping fingers, a ventricular septal defect, and polyhydramnios. Twin 2 was structurally normal. In view of the lethal condition and associated polyhydramnios affecting one of the twins, prenatal surveillance for signs of tense polyhydramnios and premature labour was undertaken. The pregnancy proceeded uneventfully until 37 weeks, at which time a Caesarean section was performed. At birth, neonatal blood from the abnormal twin confirmed trisomy 14 mosaicism in 12 per cent of lymphocytes. The infant died on day 36 of life.
Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies.
Massara Lucía S,Delea Marisol,Espeche Lucía,Bruque Carlos D,Oliveri Jaen,Brun Paloma,Furforo Lilian,Dain Liliana,Rozental Sandra
Cytogenetic and genome research
Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic trisomy involving chromosome 14 and the X chromosome detected by array CGH. Karyotype analysis revealed a double mosaic with 2 independent abnormal cell lines and the absence of 46,XX and 48,XXX,+14 cell lineages. The patient showed most of the clinical characteristics of mosaic trisomy 14. Analysis of autosomal DNA markers in the proband's blood sample did not support the presence of chimerism. Further analysis of chromosome X DNA markers suggests that the extra X chromosome most probably arose as a consequence of nondisjunction in meiosis II in the maternal lineage.
Trisomy 14 Mosaicism: a case without evidence of neurodevelopmental delay and a review of the literature.
Merritt T Allen,Natarajan Girija
American journal of perinatology
Trisomy 14 mosaicism is a rare chromosomal defect with only 20 cases reported in the literature. We describe a child with trisomy 14 mosaicism who has some previously described and some novel phenotypic features. Trisomy 14 mosaicism was demonstrated in both blood lymphocytes and from skin fibroblasts, and with normal parents and siblings. This child had no evidence of neurodevelopmental delay at 6 years of age on formal testing, suggesting that mental retardation is not universal in this condition. This child did not demonstrate neurodevelopmental delay, which as been reported universally among children with trisomy 14 mosaicism.
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.
Ushijima Kikumi,Yatsuga Syuichi,Matsumoto Takako,Nakamura Akie,Fukami Maki,Kagami Masayo
Journal of human genetics
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously reported patients with a combination of trisomy 14 mosaicism and upd(14)mat, the detailed clinical features of these patients remain to be elucidated. Here we report a severely short-statured girl with feeding difficulties and failure to thrive, ear abnormalities, deafness, small hands, and developmental delay. Karyotyping, FISH analysis, methylation analysis, and microsatellite marker analysis using her leukocytes and buccal cells showed that she had a combination of trisomy 14 mosaicism and upd(14)mat. Furthermore, a comparison of the clinical features of this patient with those of previously reported patients with genetic anomalies including the combination of trisomy 14 mosaicism and upd(14)mat or upd(14)mat suggested that the severe short stature observed in patients with a combination of trisomy 14 mosaicism and upd(14)mat stemmed from the synergic effect of these two events. In severely short-statured patients with trisomy 14 mosaicism, we should be aware of the possible coexistence of upd(14)mat.
Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.
Balbeur Samuel,Grisart Bernard,Parmentier Benoit,Sartenaer Daniel,Leonard Pierre-Emmanuel,Ullmann Urielle,Boulanger Sébastien,Leroy Luc,Ngendahayo Placide,Lungu-Silviu Constantin,Lysy Philippe,Maystadt Isabelle
Clinical case reports
Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader-Willi-like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a 15-year-old girl.
Mosaic trisomy 14 and aorta-pulmonary window association: A case report.
Yilmaz Fatma Hilal,Oflaz Mehmet Burhan,Tarakçı Nuriye,Baysal Tamer,Altunhan Hüseyin
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. Congenital heart anomalies can accompany in this syndrome. To the best of our knowledge, this is the first case of mosaic trisomy 14 with an aortopulmonary window to be described in the literature.
Partial proximal trisomy 14: identification and molecular characterization in a girl with global developmental delay.
Dutta U R,Pidugu V K,Dalal A
Genetic counseling (Geneva, Switzerland)
Chromosomal rearrangements associated with a disease play a significant role in the phenotypic manifestation. Here we report a 9-month-old girl with de novo partial proximal trisomy 14 with seizures and global developmental delay. Cytogenetic investigations revealed a karyotype of 47,XX+marker. The marker was approximately the size of G-group chromosomes and almost mistaken as chromosome 22 due to its banding pattern but the trisomy 22 was ruled out considering its lethality. To find out the origin of the marker chromosome, Spectral karyotyping (SKY) was performed which showed the marker to be of chromosome 14 origin. Further Molecular cytogenetic analysis with whole chromosome 14 confirmed the marker as a derivative 14. Fluorescence in situ hybridization (FISH) with centromeric probe 14 also showed 3 signals. Further fine mapping with three Bacterial Artificial Chromosome clones helped us to tentatively find the extent of the break point regions. The use of SKY and FISH permitted the characterization of this cytogenetic abnormality. The clinical data of the present case are compared with other published cases in the literature. This helps in better genetic counseling and also in the genotype/phenotype correlation. The impact of the extra chromosomal part in relation with the phenotype of the patient is also discussed.
Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.
Zhang Shujie,Qin Haisong,Wang Jin,OuYang Luping,Luo Shiyu,Fu Chunyun,Fan Xin,Su Jiasun,Chen Rongyu,Xie Bobo,Hu Xuyun,Chen Shaoke,Shen Yiping
BACKGROUND:Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases have so far been reported. CASE PRESENTATION:Here we reported a case of concomitant UPD(14)mat and mosaic trisomy 14 in a 10-year-old Chinese patient. Most clinical features of our patient were consistent with those previous reported for UPD(14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty. SNP array analysis revealed a mixture of chromosome 14 maternal isodisomy with heterodisomy and a low level trisomy mosaicism of whole chromsome 14 in blood and hyperpigmented skin samples, whereas only UPD(14)mat was detected in normal skin sample. Cytogenetic analysis identified one trisomy 14 cell in 100 metaphase of peripheral blood lymphocytes (47,XX, +14/46,XX). CONCLUSIONS:To our knowledge, this is the first case of a patient with UPD(14)mat and mosaic trisomy 14 reported in a Chinese patient. The definitive genetic diagnosis is beneficial for genetic counseling and clinical management of our patient, and for improving our understanding of the genotype-phenotype correlations of concomitant UPD(14)mat and mosaic trisomy 14.
Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14.
Velissariou Voula,Sachinidi Francis,Christopoulou Stavroula,Florentin Lina,Liehr Thomas,Efthymiadou Alexandra,Angelopoulou Eleni,Chrysis Dionisios,Stefanou Eunice G
Cytogenetic and genome research
Trisomy 14 (T14) mosaicism is a rare chromosomal condition characterised by various clinical features, including developmental delay, growth impairment, and dysmorphism. Here, we report on a 12-year-old female referred for cytogenetic analysis due to short stature. Standard GTG-banding analysis on the patient's peripheral blood revealed mosaic Τ14 in the form of an i(14)(q10) in 3% of cells. Furthermore, a small supernumerary marker chromosome (sSMC) had been detected in the first trimester of pregnancy in chorionic villus sampling. A skin biopsy in the patient revealed the presence of a metacentric sSMC in 100% of cells. Cytogenetic and FISH studies showed that it was a de novo metacentric bisatellited sSMC derived from chromosomes 14 or 22. Oligonucleotide array-CGH using skin cells revealed no copy number variations. Studies for uniparental disomy 14 by microsatellite analysis confirmed biparental inheritance. To the best of our knowledge, this is the second report of a patient with 2 abnormal cell lines involving chromosome 14 in different tissues, one with mosaic T14 in the form of i(14)(q10) and one with an sSMC derived from chromosome 14, present in blood and skin, respectively. A rare mechanism of trisomy rescue events is proposed to explain the presence of the different cell lines in the tissues examined. This case highlights the importance of providing the cytogenetics laboratory with adequate clinical data to test for low mosaicism and analyse different tissues if necessary, thus contributing to the suitable clinical management of the patient.
Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.
Salas-Labadía Consuelo,Lieberman Esther,Cruz-Alcívar Roberto,Navarrete-Meneses Pilar,Gómez Samuel,Cantú-Reyna Consuelo,Buiting Karin,Durán-McKinster Carola,Pérez-Vera Patricia
BACKGROUND:Trisomy 14 mosaicism is a rare chromosomal abnormality. It is associated with multiple congenital anomalies. We report a 15 year-old female with an unusual karyotype with three cell lines: 47,XX,+mar/47,XX,+14/46,XX. At six months old she had short stature, cleft palate, hyperpigmented linear spots in arms and legs and developmental delay. At present, she has mild facial dysmorphism and moderate mental retardation. METHODS:Cytogenetic analysis was performed in peripheral blood lymphocytes and in the light and dark skin following standard methods. DNAarray - Oligo 180 k was carried out using Agilent Technologies and FISH analysis was accomplished using DNA BACs probes to confirm the result obtained by DNAarray. Methylation-Specific PCR (MS-PCR) of the MEG3 promoter and microsatellite analysis were performed. RESULTS:Microarray analysis confirmed partial trisomy 14 mosaicism; the marker chromosome was found to be from chromosome 14, the result was confirmed with FISH. Methylation (14q32.3) and microsatellite (14q11-14q32.33) analysis were carried out and UPD was discarded. The global result was: mos 47,XX,+del(14)(q11.2)/47,XX,+14/46,XX. CONCLUSIONS:This is a unique case because of the coexistence of two abnormal cell lines, including one with +14 and another with +del(14)(q11.2). To our knowledge, only three patients have been reported with trisomy 14 and another abnormal cell line. The array analysis identified the marker chromosome and characterized the breakpoint. The del(14)(q11.2) does not seem to be related to any particular phenotypic characteristic of the patient; the clinical features of our patient observed until now, can be attributed to trisomy 14 mosaicism. Nevertheless, we cannot discard the manifestation of new symptoms related to her karyotype in the future.
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.
Yakoreva Maria,Kahre Tiina,Pajusalu Sander,Ilisson Piret,Žilina Olga,Tillmann Vallo,Reimand Tiia,Õunap Katrin
Temple syndrome (TS14) is a relatively recently discovered imprinting disorder caused by abnormal expression of genes at the locus 14q32. The underlying cause of this syndrome is maternal uniparental disomy of chromosome 14 (UPD(14)mat). Trisomy of chromosome 14 is one of the autosomal trisomies; in humans, it is only compatible with live birth in mosaic form. Although UPD(14)mat and mosaic trisomy 14 can arise from the same cellular mechanism, a combination of both has been currently reported only in 8 live-born cases. Hereby, we describe a patient in whom only UPD(14)mat-associated TS14 was primarily diagnosed. Due to the patient's atypical features (for TS14), additional analyses were performed and low-percent mosaic trisomy 14 was detected. It can be expected that the described combination of 2 etiologically related conditions is actually more prevalent. Additional chromosomal and molecular investigations are indicated for every patient with UPD(14)mat-associated TS14 with atypical clinical presentation.
Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult.
Fagerberg Christina R,Eriksen Finn B,Thormann Jens,Østergaard John R
Trisomy 14 mosaicism is a well-known but rare chromosomal defect with most frequently reported features being growth retardation, psychomotor retardation, broad nose, dysplastic and/or apparently low set ears, micrognathia, short neck, congenital heart disease and, in males, micropenis and cryptorchidism. Other frequent findings are prominent forehead, hyperteleorism, narrow palpebral fissures, large mouth, cleft or highly arched palate, body asymmetry and abnormal skin-pigmentation (Fujimoto et al., 1992). To the best of our knowledge, only one adult patient with trisomy 14 mosaicism has been described so far (Fujimoto et al., 1992). We present the clinical findings in a 27-year-old woman to add to the knowledge of the adult phenotype of trisomy 14 mosaicism and to demonstrate the findings on fibroblast culture.
Complete trisomy 14 mosaicism: first live-born case in Korea.
Hur Yun Jung,Hwang Taegyu
Korean journal of pediatrics
Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive with the 47,XX,+14/46,XX chromosome complement.
Congenital ocular anomaly in an infant with trisomy 14 mosaicism.
Choi Jun Ho,Choi Youn Joo,Kim So Young
Korean journal of ophthalmology : KJO
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.
A case report of the neurocognitive and behavioral phenotype of mosaic trisomy 14.
Godfrey Mary,Udhnani Manisha,Lee Nancy Raitano
Mosaic trisomy 14 is associated with impaired intellectual functioning, although no study has examined the cognitive-behavioral profile associated with the syndrome. This study provides the first case description of the cognitive-behavioral phenotype associated with mosaic trisomy 14 by contrasting the performance an adolescent female (T14) with a group of females with Down syndrome (DS; n=9). T14 performed below age expectations on most direct assessments and demonstrated weaknesses relative to the DS group on aspects of language, adaptive functioning, and executive functioning. T14 also demonstrated strengths in delayed visual recall and social skills relative to the DS group.
CASE-REPORT Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly.
Rodrigues M A,Morgade L F,Dias L F A,Moreira R V,Maia P D,Sales A F H,Ribeiro P D
Genetics and molecular research : GMR
Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hypertension and chronic fetal distress. The length of the term pregnancy was 37 weeks, the birth weight was 3.105 g, the length was 48 cm, and the head circumference was 35.5 cm. The baby remained hospitalized for 19 days in the neonatal intensive care unit due to respiratory distress syndrome and congenital malformations. Physical examination revealed a toned and normal activity, followed by phenotypic changes such as a broader forehead, formation of a cleft palate, hypertelorism, low-set ears, bilateral cryptorchidism, absence of the second toe of the left foot (ectrodactyly), and fusion of third and fourth toes in the right foot (bilateral syndactyly). Cytogenetic analysis was performed on peripheral blood cultures after hospitalization in the neonatal intensive care unit. Analysis of 200 G-banded metaphases showed that 192 (96%) had normal karyotype 46,XY and only 8 (4%) presented trisomy 47,XY,+14. It was not possible to perform cytogenetic analysis on the patient's parents. Our patient represents the first case of trisomy 14 disorder to present ectrodactyly.