PMID- 11746025
OWN - NLM
STAT- MEDLINE
DCOM- 20020221
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 104
IP  - 1
DP  - 2001 Nov 15
TI  - Characterization of a heritable partial monosomy 18p by molecular and cytogenetic 
      analysis.
PG  - 37-41
AB  - This report describes the fourth case of heritable 18p monosomy, which was 
      ascertained by prenatal diagnosis. Cytogenetic analysis of amniotic fluid cells 
      by G-banding showed an apparently distal 18p chromosome deletion and a derivative 
      X chromosome resulting from a translocation between the X and Y chromosomes. 
      Analysis of peripheral blood lymphocytes from the parents by G-banding revealed 
      the same chromosome 18 deletion in the mother, who did not have the X/Y 
      translocation. Comparative genomic hybridization (CGH) studies confirmed the loss 
      of chromosome region 18p11.3-pter previously detected, and eliminated the 
      presence of unbalanced reorganizations of other chromosome regions. No subtle 
      translocation was detected by fluorescence in situ hybridization (FISH) studies 
      using whole chromosome specific painting probes. This is a new report of a 
      heritable 18p monosomy. Although in our case the mother had several minor 
      congenital malformations, the loss of 18p11.3 band was not associated with any 
      obvious phenotypic alteration in the fetus.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Rigola, M A
AU  - Rigola MA
AD  - Unitat de Biologia, Departament de Biologia Cel.lular, Fisiologia i Immunologia, 
      Facultat de Medicina, Universitat Autonoma de Barcelona, E-08193 Bellaterra, 
      Barcelona, Spain.
FAU - Plaja, A
AU  - Plaja A
FAU - Mediano, C
AU  - Mediano C
FAU - Miro, R
AU  - Miro R
FAU - Egozcue, J
AU  - Egozcue J
FAU - Fuster, C
AU  - Fuster C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - Female
MH  - Humans
MH  - Karyotyping
MH  - Nucleic Acid Hybridization
MH  - Pregnancy
MH  - Translocation, Genetic
MH  - X Chromosome
MH  - Y Chromosome
EDAT- 2001/12/18 10:00
MHDA- 2002/02/22 10:01
CRDT- 2001/12/18 10:00
PHST- 2001/12/18 10:00 [pubmed]
PHST- 2002/02/22 10:01 [medline]
PHST- 2001/12/18 10:00 [entrez]
AID - 10.1002/ajmg.1584 [pii]
AID - 10.1002/ajmg.1584 [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Nov 15;104(1):37-41. doi: 10.1002/ajmg.1584.