Naslov
Severe limb deficiency in a child with dup(10)(q24.1->qter) syndrome

Autori
Barišić, Ingeborg ; Petković, Iskra

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

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

Ključne riječi
limb deficiency; chromosome 10; dup(10)(q24.1->qter) syndrome

Sažetak
We present a child with bilateral tibial aplasia, striking craniofacial dysmorphia, psychomotor and growth retardation due to the dup(10)(q24.1→ qter) resulting from the paternal translocation t(10:14)(q24.1 ; q32.1). As terminal deletion longitudinal preaxial reduction of lower limbs is presumably related to dup(10)q phenotype. Clinical features of our patient are compared with those of other reported cases of distal 10q duplication syndrome with duplication-deficiency karyotypes as a result of familial reciprocal translocations, or inversions, or with pure duplications of this segment. Although major systemic findings in dup(10)(q24→ qter) cases, the authors of the report have proposed that the breakpoint in their case could be at 10q22. Present finding gives evidence that dup(10)(q24→ ter) cases, the authors of the report have proposed that the breakpoint in their case could be at 10q22. Present finding gives evidence that dup(10)(q24→ ter)syndrome can produce severe developmental anomalies starting already at blastogenesis with the disruption of the primary developmental field and continuing throughout development leading to the specific set of dysmorphic features.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA