PMID- 10334476
OWN - NLM
STAT- MEDLINE
DCOM- 19990618
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 55
IP  - 3
DP  - 1999 Mar
TI  - A brief review of cryptic duplications of 21q as an emerging cause of Down 
      syndrome: practical considerations for accurate detection.
PG  - 207-11
AB  - We review five cryptic duplications of 21q in patients with Down syndrome (DS) 
      that were inherited from parental balanced translocations. All cases were 
      identified by fluorescence in situ hybridization (FISH) and or DNA diagnosis 
      because the phenotype was inconsistent with the initial cytogenetic studies. 
      These rearrangements seem to escape detection without expanded testing and are 
      probably more frequent than expected. For this reason we propose a series of 
      steps combining objective clinical diagnostic criteria, FISH and DNA methods to 
      achieve an accurate ascertainment.
FAU - Garcia-Heras, J
AU  - Garcia-Heras J
AD  - Genetic Testing Center, Bureau of Laboratories, Texas Department of Health, 
      Denton 76201, USA. jaime.garciaheras@tdh.state.tx.us
FAU - Rao, P N
AU  - Rao PN
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - *Chromosome Aberrations
MH  - *Chromosome Disorders
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Down Syndrome/*genetics/pathology
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
RF  - 21
EDAT- 1999/05/20 00:00
MHDA- 1999/05/20 00:01
CRDT- 1999/05/20 00:00
PHST- 1999/05/20 00:00 [pubmed]
PHST- 1999/05/20 00:01 [medline]
PHST- 1999/05/20 00:00 [entrez]
AID - 10.1034/j.1399-0004.1999.550310.x [doi]
PST - ppublish
SO  - Clin Genet. 1999 Mar;55(3):207-11. doi: 10.1034/j.1399-0004.1999.550310.x.