A case of partial trisomy 3q
نویسندگان
چکیده
منابع مشابه
Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q.
To the Editor: Omphalocele is not an uncommon malformation; however, it usually occurs sporadically with less than a 1% recurrence risk (Winter & Baraitser 1991 ). We present recurrence of omphalocele in siblings with partial trisomy 3q and partial monosomy 1 lq as the unbalanced product of a t (3; 1 1 ) (q21;q23)mat. This was the fourth pregnancy of an unrelated couple. The mother had one heal...
متن کاملPartial trisomy 3q causing mild Cornelia de Lange phenotype.
A brother and sister are reported with developmental delay and facial features suggestive of the Cornelia de Lange syndrome. Cytogenetic analysis showed them to be trisomic for the region 3q25.1-26.2 because of the inheritance of an unbalanced interchromosomal insertion from their father, who was a balanced insertion carrier. The clinical phenotype and cytogenetic analysis (including chromosome...
متن کاملPrenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype.
Trisomy 3q is a very rarely reported chromosomal disorder. Duplication of part of the long arm of human chromosome 3 causes a distinct and severe syndrome that leads to multiple congenital abnormalities. A 27 year-old pregnant woman was admitted to our clinic at 17 weeks of gestation. Prenatal sonography identified a fetus with an omphalocele that contained the liver and bowel, mild ventriculom...
متن کاملFamilial partial trisomy of the long arm of chromosome 3 (3q).
A case of partial trisomy of the long arm of chromosome 3 (3q21 leads to qter) is described. The clinical findings are compared with those in 5 previously reported cases. There is hirsutism and characteristic facial dysmorphism, the common features of which are a square-shaped face, prominent nasal bridge, everted nostrils, hypertelorism, and palate abnormalities; occurring less often are abnor...
متن کاملPartial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.
et al,5 respectively. To identify the IVS 1 (-13T-*G) mutation, two PCR primer sets were designed, based on the amplification refractory mutation system (ARMS) described by Newton et al.6 The first set amplifies specifically the wild type allele, the second set the IVS1(-13T-G) allele (figure). The frequencies of the three mutant alleles are given in table 1. Our data confirm those of Huie et a...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1976
ISSN: 1468-6244
DOI: 10.1136/jmg.13.6.525