Terminal deletion of chromosome 1(q43) in a female infant.
نویسندگان
چکیده
منابع مشابه
Terminal deletion of the long arm of chromosome 10.
The case of two female patients with de novo terminal deletion of the long arm of chromosome 10, one with del(10)(q26.2) and the other with del(10)(q26.3), is reported. Both presented with megabladder associated with urinary tract abnormalities. The case of four similar patients has been previously reported with bladder dilatation secondary to urinary obstruction. These new cases highlight the ...
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Obesity is a symptom of diagnostic value in multiple congenital anomaly-mental retardation syndromes. While acquired non-specific weight gain related to drug intake or associated behavioural disorders occasionally occurs in the course of mental retardation, obesity is known to be a specific feature of several well defined conditions, including Bardet-Biedl syndrome, Prader-Willi syndrome, Cohen...
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The common causes of 18p deletion syndrome are spontaneous errors in the chromosomal structure in the early stages of human embryonic development. In this study, a 29-year-old girl was introduced with the features of deletion of chromosome 18. In addition, GTG banding karyotype revealed that this case had a deletion involving the short arm of chromosome 18. In comparison with the usual phenotyp...
متن کاملCongenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p.
A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter-->3p25.1 approximately 25.2). The deletion was situated on the maternally derived chromosome and by molecular analysis the deletion breakpoint was shown to be between DNA markers D3S3589 and D3S1263.
متن کاملPrenatal diagnosis of a large de novo terminal deletion of chromosome 11q.
OBJECTIVE To describe the prenatal phenotype of the 11q deletion syndrome (Jacobsen syndrome) and present the molecular characterization of the deletion in the case presented. CASE Ultrasound at 18 and 20 weeks of gestation, on a 34-year-old woman who presented for amniocentesis, revealed slow movements, oligohydramnios and dilatation of the cerebral ventricles in the fetus. Maternal and pate...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1988
ISSN: 1468-6244
DOI: 10.1136/jmg.25.3.211