PMID- 12974736
OWN - NLM
STAT- MEDLINE
DCOM- 20040622
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 64
IP  - 4
DP  - 2003 Oct
TI  - Population data suggest that deletions of 1p36 are a relatively common chromosome 
      abnormality.
PG  - 310-6
AB  - Monosomy 1p36 is a relatively common chromosome deletion. Deletion of this 
      chromosome band can be difficult to visualize using routine cytogenetic banding 
      techniques. The use of fluorescence in situ hybridization (FISH) with telomere 
      region-specific probes has aided in the diagnosis of patients. In this study we 
      ascertained 62 patients with deletions of 1p36 from 61 families and collected 
      information regarding previous chromosome analyses, mode of ascertainment, 
      clinical indication, age at diagnosis, and parental ages. The majority of 
      deletions occur on the maternally derived chromosome. We identified terminal 
      deletions, interstitial deletions, derivative chromosomes, and complex 
      rearrangements. We correlated the type of rearrangement with the parental 
      origins. Almost 50% of the patients had at least one chromosome analysis 
      interpreted as normal. Retrospectively, 98% of deletions could be identified by 
      routine chromosome analysis with careful attention to chromosome 1p36. Clinical 
      indications were variable, with developmental delay/mental retardation being the 
      most common. Increased maternal serum alpha fetoprotein (MSAFP) was detected in 
      four of the five prenatally diagnosed cases. Maternal age at the time of birth of 
      the affected child was significantly lower than the general United States 
      population mean. We suggest a multistep approach for the diagnosis and clinical 
      evaluation in cases of monosomy 1p36.
FAU - Heilstedt, H A
AU  - Heilstedt HA
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      Texas, USA.
FAU - Ballif, B C
AU  - Ballif BC
FAU - Howard, L A
AU  - Howard LA
FAU - Kashork, C D
AU  - Kashork CD
FAU - Shaffer, L G
AU  - Shaffer LG
LA  - eng
GR  - K08 DC00169/DC/NIDCD NIH HHS/United States
GR  - M01 RR00188/RR/NCRR NIH HHS/United States
GR  - P01 HD39420/HD/NICHD NIH HHS/United States
GR  - P30 HD24064/HD/NICHD NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (alpha-Fetoproteins)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adolescent
MH  - Adult
MH  - *Chromosome Aberrations
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Cytogenetic Analysis
MH  - Female
MH  - Genetic Testing/*methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/genetics
MH  - Male
MH  - Maternal Age
MH  - alpha-Fetoproteins
EDAT- 2003/09/17 05:00
MHDA- 2004/06/24 05:00
CRDT- 2003/09/17 05:00
PHST- 2003/09/17 05:00 [pubmed]
PHST- 2004/06/24 05:00 [medline]
PHST- 2003/09/17 05:00 [entrez]
AID - 126 [pii]
AID - 10.1034/j.1399-0004.2003.00126.x [doi]
PST - ppublish
SO  - Clin Genet. 2003 Oct;64(4):310-6. doi: 10.1034/j.1399-0004.2003.00126.x.