Individuals with 22q11. 2 deletion syndrome (22q11. 2DS) can present with a wide range of
features that are highly variable, even within families. The major clinical manifestations of …

A microdeletion of chromosome 22q11. 2 is found in most patients with velocardiofacial
syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome, and in some …

Terminal deletions of chromosome 10p result in a DiGeorge-like phenotype that includes
hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations …

We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with
the HDR syndrome (h ypoparathyroidism, sensorineural d eafness, and r enal …

Background: Syndromic hearing loss that results from contiguous gene deletions is
uncommon. Deafness-infertility syndrome (DIS) is caused by large contiguous gene …

Barakat syndrome also known as HDR syndrome (Online Mendelian Inheritance in Man
[OMIM] 146255), was first described by Barakat et al. in. It is a rare genetic disorder …

MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for
investigation of 258 mentally retarded and dysmorphic patients with normal conventional …

The 22q11. 2 deletion syndrome is commonly diagnosed using fluorescence in situ
hybridization (FISH) with commercial probes. The chromosomal breakpoints and deletion …

Parathyroid hormone (PTH) is a primary calcium regulatory hormone. Elevated serum PTH
concentrations in primary and secondary hyperparathyroidism have been associated with …

Patients with 22q11. 2 deletion syndrome have heterogeneous clinical presentations
including immunodeficiency, cardiac anomalies, and hypocalcemia. The syndrome arises …