Prenatal diagnosis of a fetus with pure partial trisomy 1q32-44 due to a familial balanced rearrangement

Kimya Y., Yakut T., Egeli Ü., ÖZERKAN K. N.

PRENATAL DIAGNOSIS, vol.22, no.11, pp.957-961, 2002 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 11
  • Publication Date: 2002
  • Doi Number: 10.1002/pd.403
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.957-961
  • Keywords: partial trisomy 1q, prenatal diagnosis, amniocentesis, FISH, IN-SITU HYBRIDIZATION, LONG ARM, DUPLICATION, 1Q, CHROMOSOME-1, DELINEATION, ANOMALIES, PHENOTYPE, DELETION
  • Bursa Uludag University Affiliated: Yes


We diagnosed a pure partial trisomy of the long arm of chromosome 1 in a fetus with multiple malformations detected prenatally. The father was a carrier of a balanced rearrangement involving 46,XY,inv(1)(qter-->p36::q32-->qter::p36-->q32). The fetus had preaxial polydactyly, low-set ears, macrocephaly, a prominent forehead, a broad and flat nasal bridge, a small mouth, an arched palate, micrognathia and unilateral renal agenesis. The couple had previously an infant with the same phenotypic abnormalities. The aberration was initially detected on amniocentesis with GTG banding and was confirmed by fluorescence in situ hybridization (FISH). Our case and other published pure trisomy 1q32-44 cases showed similarities, which allowed the further delineation of the trisomy 1q syndrome. Copyright (C) 2002 John Wiley Sons, Ltd.