PMID- 10982483
OWN - NLM
STAT- MEDLINE
DCOM- 20000927
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 94
IP  - 1
DP  - 2000 Sep 4
TI  - Ring chromosome 7 and sacral agenesis.
PG  - 52-8
AB  - A ring chromosome 7 was found in a 19-month-old girl with microcephaly, growth 
      and developmental delay, multiple angiomas, and partial sacral agenesis. Absent 
      sacrum is a frequent finding in patients with 7q terminal deletions; in fact, 
      genes involved in the sacral agenesis are localized in 7q36. However, this 
      anomaly was not described previously in patients with a ring chromosome 7. High 
      resolution G-banding chromosome and fluorescence in situ hybridization (FISH) 
      demonstrated that our patient lost this region during ring formation.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Rodriguez, L
AU  - Rodriguez L
AD  - ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
FAU - Sanchis, A
AU  - Sanchis A
FAU - Villa, A
AU  - Villa A
FAU - Canovas, A
AU  - Canovas A
FAU - Peris, S
AU  - Peris S
FAU - Estivalis, M
AU  - Estivalis M
FAU - Pons, S
AU  - Pons S
FAU - Martinez-Frias, M L
AU  - Martinez-Frias ML
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  - *Chromosome Aberrations
MH  - *Chromosome Disorders
MH  - *Chromosomes, Human, Pair 7
MH  - Female
MH  - Hemangioma/genetics
MH  - Humans
MH  - Infant
MH  - Karyotyping
MH  - Microcephaly/genetics
MH  - Mosaicism/genetics
MH  - *Ring Chromosomes
MH  - Sacrococcygeal Region/*abnormalities
EDAT- 2000/09/12 11:00
MHDA- 2000/09/30 11:01
CRDT- 2000/09/12 11:00
PHST- 2000/09/12 11:00 [pubmed]
PHST- 2000/09/30 11:01 [medline]
PHST- 2000/09/12 11:00 [entrez]
AID - 10.1002/1096-8628(20000904)94:1<52::AID-AJMG11>3.0.CO;2-Q [pii]
AID - 10.1002/1096-8628(20000904)94:1<52::aid-ajmg11>3.0.co;2-q [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Sep 4;94(1):52-8. doi: 
      10.1002/1096-8628(20000904)94:1<52::aid-ajmg11>3.0.co;2-q.