Naslov
Phenotype analysis and deletion mapping in patients with partial monosomy 10p - determination of a critical region for DiGeorge and velocardiofacial syndrome

Autori
Schuffenhauer, Simone ; Lichtner, Peter ; Peykar-Derakhshandeh, Popak ; Haas, Oskar ; Back, Elke ; Wolff, Gerhard ; lipson, A, Zabel, Bernhard ; Barišić, Ingeborg ; Borochowitz, Zvi ; Rauch, Anita ; Dallapciccola, Bruno ; Meitinger, Thomas

Izvornik
Medizinische Genetik (0936-5931) 1 (1997);

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
phenotype; deletion; partial monosomy 10p; chromosome 10; DiGeorge syndrome; velocardiofacial syndrome

Sažetak
The clinical features commonly found in patients with partial monosomy 10p are mental retardation, abnormally shaped skull, epicanthal folds, hypertelorism, microretrognathia, dysmorphic low set ears, short neck, hand and foot abnormalities, renal and urinary tract anomalies, and cardiac defect. About 35% of patients show features of DiGeorge syndrome (DGS) and/or velocardiofacial syndrome (VCFS), suggesting that a haploinsufficency region for the DGS/VCFS spectrum exists on 10p (DGS2/VCFS2), in addition to that on 22q11 (DGS1/VCFS1). We present the clinical data of 11 patients with partial monosomy 10p, 5 of them have not been published previously. Nine patients show features of the DGS/VCFS spectrum, including T-cell defect (7/9), hypoplastic thymus (2/7), hypocalcemia (9/9), hypoparathyroidism (4/6), cleft palate (1/9), cardiac defect (5/9), and renal abnormality (6/9). Facial dysmorphisms of the patients with DGS2/VCFS2 are variable and different from those found in DGS1/VCFS1. The extent of 8 terminal and 3 interstitial deletions was determined by FISH analyisis using YACs, and by PCR analysis of polymorphic markers (Lichtner et al., this meeting). The critical DGS2/VCFS2 region was mapped to a single YAC and includes the loci D10S547 and D10S585.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA