PMID- 15712324
OWN - NLM
STAT- MEDLINE
DCOM- 20050609
LR  - 20161124
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 25
IP  - 2
DP  - 2005 Feb
TI  - Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 
      16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter).
PG  - 112-8
AB  - OBJECTIVES: To present the perinatal findings and molecular cytogenetic analysis 
      of de novo partial trisomy 16q and partial monosomy 20q and a review of the 
      literature. CASE AND METHODS: Obstetric ultrasound at 33 weeks' gestation 
      revealed intrauterine growth restriction (IUGR) and dolichocephaly in a 
      27-year-old primigravid woman. Prenatal cytogenetic diagnosis was not offered 
      because of the late stage of gestation. A 2800-g male baby was delivered at 41 
      weeks' gestation by cesarean section because of fetal distress. The infant 
      postnatally presented characteristic craniofacial dysmorphism, hypotonia, cleft 
      palate, congenital heart defects, a subependymal cyst, and hypospadia. 
      Cytogenetic analysis revealed an additional material attached to the terminal 
      region of chromosome 20q. The parental karyotypes were normal. Spectral 
      karyotyping (SKY), fluorescence in situ hybridization (FISH), and polymorphic DNA 
      markers were used to investigate the origin of the de novo aberrant chromosome. 
      RESULTS: SKY using 24-color probes, FISH using specific 16p, 16q, 20 centromeric, 
      and 20q telomeric probes, and polymorphic DNA marker analysis confirmed maternal 
      origin of the duplication of distal 16q and the deletion of terminal 20q. 
      Karyotype of the proband was designated as 46,XY.ish 
      der(20)t(16;20)(q22.1;q13.3)(SKY+,16qTEL+,20qTEL-). CONCLUSIONS: Partial trisomy 
      16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter) may be associated 
      with the perinatal findings of IUGR, dolichocephaly, hypotonia, cleft palate, 
      congenital heart defects, a subependymal cyst, and hypospadia. SKY, FISH, and 
      genetic marker studies help in delineating the parental origin and the regions of 
      the deletion and duplication in the de novo unbalanced translocation.
CI  - Copyright 2005 John Wiley & Sons, Ltd.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan, Republic of China. cpc_mmh@yahoo.com
FAU - Lin, Shuan-Pei
AU  - Lin SP
FAU - Lin, Chyi-Chyang
AU  - Lin CC
FAU - Li, Yueh-Chun
AU  - Li YC
FAU - Chern, Schu-Rern
AU  - Chern SR
FAU - Chen, Wei-Min
AU  - Chen WM
FAU - Lee, Chen-Chi
AU  - Lee CC
FAU - Hsieh, Lie-Jiau
AU  - Hsieh LJ
FAU - Wang, Wayseen
AU  - Wang W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/diagnostic imaging
MH  - Adult
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 16
MH  - Chromosomes, Human, Pair 20
MH  - Cytogenetic Analysis
MH  - DNA/analysis
MH  - Diagnosis, Differential
MH  - Female
MH  - Fetal Growth Retardation/*diagnosis/diagnostic imaging
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - Maxillofacial Abnormalities/diagnosis/diagnostic imaging
MH  - Pregnancy
MH  - Pregnancy Trimester, Third
MH  - Trisomy/*diagnosis
MH  - Ultrasonography, Prenatal
RF  - 17
EDAT- 2005/02/16 09:00
MHDA- 2005/06/10 09:00
CRDT- 2005/02/16 09:00
PHST- 2005/02/16 09:00 [pubmed]
PHST- 2005/06/10 09:00 [medline]
PHST- 2005/02/16 09:00 [entrez]
AID - 10.1002/pd.1083 [doi]
PST - ppublish
SO  - Prenat Diagn. 2005 Feb;25(2):112-8. doi: 10.1002/pd.1083.