PMID- 9240743
OWN - NLM
STAT- MEDLINE
DCOM- 19970819
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 65
IP  - 3
DP  - 1996 Oct 28
TI  - Trisomy 10p: report of an unusual mechanism of formation and critical evaluation 
      of the clinical phenotype.
PG  - 197-204
AB  - A de novo tandem inverted duplication of 10p was diagnosed in a 17-week fetus. 
      The appearance of GTG banded preparations and the results of fluorescence in situ 
      hybridization (FISH) studies are consistent with duplication of the entire arm, 
      including the telomere. The FISH studies also demonstrated the presence of 
      chromosome 10 alphoid repeats at the junction between the inverted segment and 
      the long arm, consistent with the presence of the entire long arm of the abnormal 
      chromosome. Therefore, this is a case of pure trisomy 10p without an associated 
      deficiency of any other chromosome segment. A comparison of the phenotype 
      associated with pure trisomy 10p and trisomy associated with a 
      duplication/deficiency state documented a higher frequency (of borderline 
      significance) of clubfoot and high-arched/cleft palate in the cases of pure 
      trisomy. The frequency of palatal anomalies was observed to be significantly 
      higher in the cases where the breakpoint of the trisomic segment is in the most 
      proximal band (10p11). However, other clinical manifestations were observed 
      inconsistently, even in the cases with pure, nearly complete trisomy 10p. 
      Therefore, a clearly defined trisomy 10p clinical syndrome could not be 
      documented in this study.
FAU - Clement, S J
AU  - Clement SJ
AD  - Department of Obstetrics and Gynecology, University of Washington, Seattle 
      98195-7470, USA.
FAU - Leppig, K A
AU  - Leppig KA
FAU - Jarvik, G P
AU  - Jarvik GP
FAU - Kapur, R P
AU  - Kapur RP
FAU - Norwood, T H
AU  - Norwood TH
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - *Chromosomes, Human, Pair 10
MH  - Cleft Palate/*genetics
MH  - Clubfoot/*genetics
MH  - Female
MH  - Fetus/*abnormalities
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pregnancy
MH  - *Trisomy
EDAT- 1996/10/28 00:00
MHDA- 2000/06/20 09:00
CRDT- 1996/10/28 00:00
PHST- 1996/10/28 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1996/10/28 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19961028)65:3<197::AID-AJMG5>3.0.CO;2-N [pii]
AID - 10.1002/(SICI)1096-8628(19961028)65:3<197::AID-AJMG5>3.0.CO;2-N [doi]
PST - ppublish
SO  - Am J Med Genet. 1996 Oct 28;65(3):197-204. doi: 
      10.1002/(SICI)1096-8628(19961028)65:3<197::AID-AJMG5>3.0.CO;2-N.