PMID- 16276107
OWN - NLM
STAT- MEDLINE
DCOM- 20060203
LR  - 20161124
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 112
IP  - 1-2
DP  - 2006
TI  - Molecular investigation of a dicentric 13;17 chromosome found in a 21-week 
      gestation fetus with multiple congenital abnormalities.
PG  - 166-9
AB  - We report a 21-week gestation fetus terminated because of multiple congenital 
      abnormalities seen on ultrasound scan, including ventriculomegaly, possible 
      clefting of the hard palate, cervical hemivertebrae, micrognathia, abnormal 
      heart, horseshoe kidney and a 2-vessel umbilical cord. On cytogenetic 
      examination, the fetus was found to have a male karyotype with 45 chromosomes 
      with a dicentric chromosome, which appeared to consist of the long arms of 
      chromosomes 13 and 17. Molecular genetic investigations and fluorescence in situ 
      hybridization (FISH) unexpectedly showed that the derivative chromosome contained 
      two interstitial blocks of chromosome 17 short arm sequences, totalling 
      approximately 7 Mb, between the two centromeres. This effectively made the fetus 
      monosomic for approximately 15 Mb of 17p without the concurrent trisomy for 
      another chromosome normally seen following malsegregation of reciprocal 
      translocations. It also illustrates the complexity involved in the formation of 
      some structurally abnormal chromosomes, which can only be resolved by detailed 
      molecular investigations.
CI  - Copyright 2006 S. Karger AG, Basel.
FAU - Cockwell, A E
AU  - Cockwell AE
AD  - Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK. 
      cockwell@alisbury.nhs.uk
FAU - Maloney, V K
AU  - Maloney VK
FAU - Thomas, N S
AU  - Thomas NS
FAU - Smith, E L
AU  - Smith EL
FAU - Gonda, P
AU  - Gonda P
FAU - Bass, P
AU  - Bass P
FAU - Crolla, J A
AU  - Crolla JA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - Abnormalities, Multiple/diagnostic imaging/*embryology/*genetics
MH  - Abortion, Induced
MH  - Adult
MH  - *Chromosome Aberrations
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 13
MH  - *Chromosomes, Human, Pair 17
MH  - Female
MH  - Gestational Age
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - Sequence Deletion
MH  - Skin/embryology
MH  - Ultrasonography
EDAT- 2005/11/09 09:00
MHDA- 2006/02/04 09:00
CRDT- 2005/11/09 09:00
PHST- 2005/01/18 00:00 [received]
PHST- 2005/02/21 00:00 [accepted]
PHST- 2005/11/09 09:00 [pubmed]
PHST- 2006/02/04 09:00 [medline]
PHST- 2005/11/09 09:00 [entrez]
AID - 87530 [pii]
AID - 10.1159/000087530 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2006;112(1-2):166-9. doi: 10.1159/000087530.