PMID- 12116275
OWN - NLM
STAT- MEDLINE
DCOM- 20021001
LR  - 20061115
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 110
IP  - 1
DP  - 2002 Jun 1
TI  - Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis 
      and anterior myelomeningocele.
PG  - 73-7
AB  - We report on a new patient with a 7q terminal deletion. The 18-month-old boy had 
      metal retardation, microcephaly, a distinctive face, bilateral coloboma, 
      cafe-au-lait spot on the abdomen, and sacral agenesis. The high resolution GTG 
      bands (550-850 bands), currently used in our laboratory, showed a 7q terminal 
      deletion, which was also confirmed with fluorescence in situ hybridization 
      (FISH). The homeobox HLXB9 gene, localized at 7q36 has been demonstrated to be 
      involved in sacral agenesis; in fact patients with 7q terminal deletions 
      frequently have this malformation. We could not perform molecular studies in this 
      patient to confirm the HLXB9 haploinsufficiency, but we postulate that he carried 
      it.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Rodriguez, Laura
AU  - Rodriguez L
AD  - ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain. 
      luisama@eucmos.sim.ucm.es
FAU - Cuadrado Perez, Irene
AU  - Cuadrado Perez I
FAU - Herrera Montes, Juana
AU  - Herrera Montes J
FAU - Lorente Jareno, Maria Luisa
AU  - Lorente Jareno ML
FAU - Lopez Grondona, Fermina
AU  - Lopez Grondona F
FAU - Martinez-Frias, Maria Luisa
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 Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Meningomyelocele/*pathology
MH  - Sacrum/*abnormalities
EDAT- 2002/07/13 10:00
MHDA- 2002/10/03 04:00
CRDT- 2002/07/13 10:00
PHST- 2002/07/13 10:00 [pubmed]
PHST- 2002/10/03 04:00 [medline]
PHST- 2002/07/13 10:00 [entrez]
AID - 10.1002/ajmg.10365 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Jun 1;110(1):73-7. doi: 10.1002/ajmg.10365.