PMID- 14968892
OWN - NLM
STAT- MEDLINE
DCOM- 20040601
LR  - 20170214
IS  - 0009-9228 (Print)
IS  - 0009-9228 (Linking)
VI  - 43
IP  - 1
DP  - 2004 Jan-Feb
TI  - 22q13 deletion syndrome: an update and review for the primary pediatrician.
PG  - 43-53
AB  - Recent advances in genetic testing can help to provide a specific diagnosis to 
      children born with syndromes that result in congenital anomalies and 
      developmental delay. One such emerging condition is the 22q13 deletion syndrome. 
      With the introduction of subtelomeric fluorescence-in-situ hybridization (FISH) 
      analysis, the 22q13 deletion has become recognized as a relatively widespread and 
      underdiagnosed cause of mental retardation. Primary-care physicians play an 
      important role in the care of children with 22q13 deletion syndrome, from 
      suspecting the diagnosis in a developmentally delayed child through the medical, 
      developmental, and behavioral aspects of their care. Furthermore, they serve as a 
      valuable source of support and advocacy for the family and a resource for other 
      care providers. The remainder of this article addresses the current state of 
      knowledge regarding 22q13 deletion syndrome and offers the primary-care physician 
      a framework in which to provide care and information.
FAU - Havens, Joaquim M
AU  - Havens JM
AD  - Harvard Medical School, Boston, MA, USA.
FAU - Visootsak, Jeannie
AU  - Visootsak J
FAU - Phelan, Mary C
AU  - Phelan MC
FAU - Graham, John M Jr
AU  - Graham JM Jr
LA  - eng
GR  - GM08243/GM/NIGMS NIH HHS/United States
GR  - HD22657-11/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - United States
TA  - Clin Pediatr (Phila)
JT  - Clinical pediatrics
JID - 0372606
SB  - IM
MH  - Child
MH  - Chromosome Deletion
MH  - Chromosome Disorders/*diagnosis/genetics/*therapy
MH  - *Chromosomes, Human, Pair 22
MH  - Craniofacial Abnormalities/diagnosis/genetics/therapy
MH  - Developmental Disabilities/*diagnosis/genetics/*therapy
MH  - Humans
MH  - *Primary Health Care
MH  - Syndrome
RF  - 38
EDAT- 2004/02/19 05:00
MHDA- 2004/06/02 05:00
CRDT- 2004/02/19 05:00
PHST- 2004/02/19 05:00 [pubmed]
PHST- 2004/06/02 05:00 [medline]
PHST- 2004/02/19 05:00 [entrez]
AID - 10.1177/000992280404300106 [doi]
PST - ppublish
SO  - Clin Pediatr (Phila). 2004 Jan-Feb;43(1):43-53. doi: 10.1177/000992280404300106.