PMID- 12424755
OWN - NLM
STAT- MEDLINE
DCOM- 20030429
LR  - 20041117
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 22
IP  - 11
DP  - 2002 Nov
TI  - Prenatal diagnosis of a fetus with pure partial trisomy 1q32-44 due to a familial 
      balanced rearrangement.
PG  - 957-61
AB  - 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.
CI  - Copyright 2002 John Wiley & Sons, Ltd.
FAU - Kimya, Yalcin
AU  - Kimya Y
AD  - Department of Obstetrics and Gynaecology, Uludagcaron University Medical Faculty, 
      Turkey. ykimya@uludag.edu.tr
FAU - Yakut, Tahsin
AU  - Yakut T
FAU - Egeli, Unal
AU  - Egeli U
FAU - Ozerkan, Kemal
AU  - Ozerkan K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adult
MH  - Chromosome Disorders/*diagnosis
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Female
MH  - *Gene Rearrangement
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Translocation, Genetic
MH  - *Trisomy
EDAT- 2002/11/09 04:00
MHDA- 2003/04/30 05:00
CRDT- 2002/11/09 04:00
PHST- 2002/11/09 04:00 [pubmed]
PHST- 2003/04/30 05:00 [medline]
PHST- 2002/11/09 04:00 [entrez]
AID - 10.1002/pd.403 [doi]
PST - ppublish
SO  - Prenat Diagn. 2002 Nov;22(11):957-61. doi: 10.1002/pd.403.