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We describe here a 3‐year‐old girl demonstrating combined cellular immunodeficiency of B‐ and T‐cells, pancytopenia, multiple anomalies, and severe mental retardation. Cytogenetic analysis and fluorescent in situ hybridization (FISH) indicated an unbalanced translocation of chromosomes 8q...
In this report, we describe two siblings, a brother and a sister, with mental retardation and limb abnormalities (brachymetacarpy and brachymetatarsy in the brother and clinodactyly in his sister). Fluorescent in situ hybridization analysis (FISH) using subtelomeric probes proved that the...
The terminology describing congenital vascular birthmarks has been a source of confusion in the medical literature. Mulliken and Glowacki (1982: Plas Recons Surg 69:412–422) published a biologic classification system which has become the most widely accepted framework for classifying vascular...
A four‐generation Thai family affected with Van der Woude syndrome is reported. The disorder appeared to be originally inherited from a person who was half Thai and half Pakistani. The lip lesions found in this family were varied and did not appear to be related to other phenotypes. There were...
We describe the hitherto smallest interstitial 8p11.2 deletion in a patient with congenital spherocytosis, dysmorphic features, and growth delay in association with hypogonadotropic hypogonadism and anosmia. The latter features are characteristic for Kallmann syndrome. In contrast to the...
We report a family with apparent autosomal dominant inheritance of scalp defects, polythelia, microcephaly, and developmental delay. A review of the literature revealed no previous report of this combination of anomalies. We conclude that these patients have a new autosomal dominant syndrome. ©...
DFNA2 is a complex locus. Two hearing loss genes have been identified at this site: GJB3, the gene that encodes the gap junction protein connexin 31, and KCNQ4, a voltage‐gated potassium channel gene. A third gene has previously been postulated to explain the hearing loss in an Indonesian...
Haploinsufficiency of chromosome 22q11.2 is a well‐established cause of both the DiGeorge anomaly and the velocardiofacial syndrome. This condition shows a continuous spectrum of phenotypic manifestations with a considerable inter‐ and intrafamilial variability. We report on a...
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