Naslov
Deletion mapping in patients with partial monosomy 10p - determinatnion of a critical region for DiGeorge and velocardiofacial syndrome

Autori
Schuffenhauer, Simone ; Lichtner, Peter ; Derakhshander-Peykar, Popak ; Haas, Oskar ; Back, Elke ; Wolff, Gerhard ; Lipson, A. ; Zabel, Bernhard ; Barišić, Ingeborg ; Borochowitz, Zvi ; Rauch, Anita ; Dallapiccola, Burno ; Meitinger, Thomas

Izvornik
Medizinische Genetik (0936-5931) 9 (1997), 2;

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

Ključne riječi
deletion mapping; DiGeorge syndrome; velocardiofacial syndrome; partial monosomy 10p

Sažetak
About 35% of patients with partial monosomy 10p show features of DiGeorge syndrome (DGS) and/or velocardiofacial syndrome (VCFS), suggesting a second haploinsufficiency locus (DGS2/VCFS2) in addition to that on 22q11 (DGS1/VCFS1). Other features associated with monosomy 10 p are abnormally shaped skull, epicanthal folds, hypertelorism, microretrognathia, dysmorphic low set ears, short neck, and hand and foot abnormalities. 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), hypocalcaemia (9/9), hypoparathyroidism (4/6), cleft palate (1/9), cardiac defect (5/9), and renal abnormality 86/9). 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 analysis using YACs, and by PCR analysis of polymorphic markers. The smallest region of deletion overlap (SRO) in DGS2/VCFS2 patients is defined by two deletions, which map to a single YAC clone. PACs form this YAC clone were isolated, and FISH analyisis demonstrates that the SRO includes the loci D10SS47 and D10SS85. FISH analysis in DGS/VCFS patients without monosomy 22q11 using PACs form the critical DGS2/VCFS2 region did not reveal a submicroscopic deletion so far.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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