PMID- 15305349
OWN - NLM
STAT- MEDLINE
DCOM- 20041130
LR  - 20040812
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 24
IP  - 8
DP  - 2004 Aug
TI  - Duplication of 9 p11.2-p13.1: a benign cytogenetic variant.
PG  - 619-22
AB  - The detection of very rare variants in prenatal diagnosis often causes counseling 
      difficulties and anxiety in parents. We describe a duplication of the proximal 
      region of chromosome 9 short arm in two cases of prenatal diagnosis and in one 
      young woman, with evidence that such rearrangement is an uncommon variant. The 
      duplication was investigated using Fluorescence in situ hybridization (FISH). 
      Although the cytogenetic findings were indicative of a 'duplication 9p syndrome' 
      associated with mental and developmental retardation, we were able to demonstrate 
      that the rearrangement was a heteromorphism with no phenotypic consequence. We 
      also determined the breakpoint regions of the rearrangement and identified the 
      BAC probes that precisely define the duplicated region devoid of risk of 
      phenotypic effects.
CI  - Copyright 2004 John Wiley & Sons, Ltd.
FAU - Di Giacomo, Marilena C
AU  - Di Giacomo MC
AD  - Sezione di Genetica Medica, DIMIMP, Universita di Bari, Bari, Italia.
FAU - Cesarano, Carla
AU  - Cesarano C
FAU - Bukvic, Nenad
AU  - Bukvic N
FAU - Manisali, Evangelia
AU  - Manisali E
FAU - Guanti, Ginevra
AU  - Guanti G
FAU - Susca, Francesco
AU  - Susca F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 9/*genetics
MH  - Female
MH  - *Gene Duplication
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - *Maternal Age
MH  - Phenotype
MH  - Pregnancy
EDAT- 2004/08/12 05:00
MHDA- 2004/12/16 09:00
CRDT- 2004/08/12 05:00
PHST- 2004/08/12 05:00 [pubmed]
PHST- 2004/12/16 09:00 [medline]
PHST- 2004/08/12 05:00 [entrez]
AID - 10.1002/pd.931 [doi]
PST - ppublish
SO  - Prenat Diagn. 2004 Aug;24(8):619-22. doi: 10.1002/pd.931.