PMID- 14745919
OWN - NLM
STAT- MEDLINE
DCOM- 20040727
LR  - 20041215
IS  - 1542-0752 (Print)
IS  - 1542-0752 (Linking)
VI  - 67
IP  - 12
DP  - 2003 Dec
TI  - New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl.
PG  - 985-8
AB  - BACKGROUND: The phenotypic expression of an additional chromosome 9 causes a very 
      broad clinical spectrum of anomalies. The prognosis for infants with non-mosaic 
      tetrasomy 9p is poor, and they usually die at a very early age. CASE: In this 
      article we present a new case of complete tetrasomy 9p in a newborn girl with 
      multiple dysmorphologic features. Cytogenetic studies were carried out by CBG, 
      GTG, and QFQ chromosome bandings, as well as by fluorescence in situ 
      hybridization (FISH). The cytogenetic findings for the newborn girl showed an 
      extra chromosome interpreted as an isochromosome 9p. The karyotype was 
      characterized as 47,XX,+mar.ish i(9)(p10)(wcp9+). The parental chromosomes were 
      normal. CONCLUSIONS: The karyotype and clinical features of the newborn girl 
      (e.g., typical craniofacial dysmorphism, severe skeletal anomalies, and visceral 
      and genito-urinary malformations), compared with cases reported in the 
      literature, give additional support to a clinical definition of this chromosomal 
      syndrome.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - de Azevedo Moreira, Lilia Maria
AU  - de Azevedo Moreira LM
AD  - Laboratorio de Genetica Humana e Citogenetica, Instituto de Biologia, 
      Universidade Federal da Bahia, Campus Universitario de Ondina, Bahia, Brazil. 
      lazevedo@ufba.br
FAU - Freitas, Lucy Magalhaes
AU  - Freitas LM
FAU - Gusmao, Fabio Alexandre Ferreira
AU  - Gusmao FA
FAU - Riegel, Mariluce
AU  - Riegel M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Birth Defects Res A Clin Mol Teratol
JT  - Birth defects research. Part A, Clinical and molecular teratology
JID - 101155107
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - *Aneuploidy
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 9
MH  - Fatal Outcome
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Maternal Age
MH  - Mosaicism/*genetics
MH  - Pregnancy, High-Risk
EDAT- 2004/01/28 05:00
MHDA- 2004/07/28 05:00
CRDT- 2004/01/28 05:00
PHST- 2004/01/28 05:00 [pubmed]
PHST- 2004/07/28 05:00 [medline]
PHST- 2004/01/28 05:00 [entrez]
AID - 10.1002/bdra.10126 [doi]
PST - ppublish
SO  - Birth Defects Res A Clin Mol Teratol. 2003 Dec;67(12):985-8. doi: 
      10.1002/bdra.10126.