PMID- 9557898
OWN - NLM
STAT- MEDLINE
DCOM- 19980803
LR  - 20051116
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 77
IP  - 1
DP  - 1998 Apr 28
TI  - Dilemma of trisomy 20 mosaicism detected prenatally: is it an innocent finding?
PG  - 72-5
AB  - The clinical significance of mosaicism trisomy 20 detected prenatally following 
      amniocentesis remains uncertain, due to the rarity of liveborn cases with 
      inconsistent clinical findings, the short postnatal follow-up, and failure in 
      evaluating other fetal tissues for the presence of the trisomy. We report on a 15 
      month-old 46,XX chromosome constitution in white blood cells, while skin 
      fibroblasts demonstrated trisomy 20 mosaicism (54%) by fluorescence in situ 
      hybridization (FISH) analysis. Clinical examination of the baby showed only minor 
      phenotypic signs (bilateral epicanthal folds, delayed closure of fontanel with no 
      other gross anomalies), but demonstrated a considerable developmental delay in 
      gross and fine motor skills along with hypotonicity. This is the second oldest 
      described liveborn with trisomy 20 mosaicism confirmed in skin fibroblasts. This 
      cytogenetic aberration along with her developmental delay suggests that the two 
      findings are related and that aberration affects various fetal tissues and is not 
      confined to extra-embryonic tissue as suggested previously. Yet, an undiagnosed 
      condition may be the cause of the child's developmental delay. Based on this case 
      and following a review of the literature we suggest that when mosaic trisomy 20 
      is identified in amniocytes, further evaluation is required. Cord blood should be 
      analyzed preferably by FISH. During counseling the parents should be advised of 
      an additional risk, such as developmental delay, even when fetal cord karyotype 
      and detailed ultrasonic scan are normal.
FAU - Reish, O
AU  - Reish O
AD  - Genetic Institute, Meir General Hospital, Kefar Saba, Israel.
FAU - Wolach, B
AU  - Wolach B
FAU - Amiel, A
AU  - Amiel A
FAU - Kedar, I
AU  - Kedar I
FAU - Dolfin, T
AU  - Dolfin T
FAU - Fejgin, M
AU  - Fejgin M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Chromosomes, Human, Pair 20/*genetics
MH  - Diagnosis, Differential
MH  - Female
MH  - Follow-Up Studies
MH  - Humans
MH  - Infant
MH  - Karyotyping
MH  - Mosaicism/*diagnosis/genetics
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Trisomy/*diagnosis/genetics
RF  - 15
EDAT- 1998/04/29 06:37
MHDA- 2000/06/20 09:00
CRDT- 1998/04/29 06:37
PHST- 1998/04/29 06:37 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/04/29 06:37 [entrez]
AID - 10.1002/(SICI)1096-8628(19980428)77:1<72::AID-AJMG15>3.0.CO;2-L [pii]
PST - ppublish
SO  - Am J Med Genet. 1998 Apr 28;77(1):72-5.