Pure trisomy 20p resulting from isochromosome formation and whole arm translocation
نویسندگان
چکیده
منابع مشابه
Trisomy 14 mosaicism in a translocation 14q15q carrier: probable dissociation and isochromosome formation.
A case of trisomy 14q mosaicism is described and compared with three other similar reported cases. The clinical picture is characterised by severe developmental retardation, failure to thrive, and somatic abnormalities including skeletal asymmetry, high arched or cleft palate, and low set dysplastic ears. The present chromosome imbalance probably resulted from dissociation of a balanced 14q15q ...
متن کاملTrisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography.
Case Report Clinical Findings. The proposita (Fig. 1) was the 3rd child of healthy Italian parents having no common ancestors and without any family history of malformations. The mother indicated no previous abortions. The first 2 children are living and clinically well. The karyotypes of the parents were found to be normal. Birth of the proposita occurred spontaneously 2-i weeks before term fo...
متن کاملA Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is th...
متن کاملPartial trisomy 6p and partial trisomy 22 resulting from 3:1 meiotic disjunction of maternal (6p;22q) translocation.
A male infant, partially trisomic for a small segment of chromosomes 6 and 22 resulting from a maternal translocation, is described. Comparison of the phenotypic features of the proband with those noted in partial 6p and partial 22 trisomies revealed some common features found in both chromosome anomalies but especially reinforced those features thought to be characteristic of 6p trisomy syndrome.
متن کاملFamilial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature.
Carriers of completely balanced chromosomal translocations have all necessary genetic information. Nevertheless, because of the possibility of maldistribution during gametogenesis, they are at increased risk for infertility, miscarriage, stillbirth or having a child with congenital anomalies including mental retardation. As postnatal clinical reports are infrequent, prediction of clinical cours...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2000
ISSN: 1468-6244
DOI: 10.1136/jmg.37.6.454