Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation.
نویسندگان
چکیده
We describe a female stillbirth with duplication of 3q21-->qter and deletion of 11q23-->qter resulting from an unbalanced segregation of a maternal t(3;11) reciprocal translocation. The proband had some of the clinical features consistent with those seen in patients with dup(3q) syndrome or distal del(11q) syndrome. Prenatal sonographic examination showed short limbs, intrauterine growth retardation, and an omphalocele containing the liver.
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 کاملPure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly.
Duplication of chromosome 19, partial or complete, has rarely been described. Trisomy of its short arm (19p) was briefly reported in abstract form by Byrne et al in 1980 in a newborn patient with dysmorphism and intrauterine growth retardation and in 1992 by Salbert et al in a dysmorphic newborn male. The delineation of these two patients was hampered by deletion of the terminal band of chromos...
متن کاملDe novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia.
We present the perinatal findings of a fetus with a de novo unbalanced chromosome translocation that resulted in monosomy for proximal 14q and monosomy for distal 4p. Prenatal sonographic examination at 27 weeks of gestation showed intrauterine growth retardation, microcephaly, cardiomegaly with arrhythmia, and asymmetry of the upper limbs. Genetic amniocentesis showed an abnormal karyotype of ...
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 کاملFurther delineation of the dup(3q) syndrome.
Three patients with duplication of 3q regions ranging from 3q25----qter to the entire long arm provide additional documentation of the dup(3q) malformation syndrome. Data on 40 cases now reported define a characteristic face with hirsutism, synophrys, broad nasal root, anteverted nares, downturned corners of the mouth, micrognathia, and malformed ears recognizable even in the 30-week fetus and ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 33 7 شماره
صفحات -
تاریخ انتشار 1996