PMID- 9184249
OWN - NLM
STAT- MEDLINE
DCOM- 19970723
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 51
IP  - 4
DP  - 1997 Apr
TI  - Prenatal diagnosis of mosaic tetrasomy 21q confirmed by fluorescence in situ 
      hybridization.
PG  - 260-3
AB  - We describe the first case of a live-born neonate with mosaic tetrasomy 21q 
      confirmed by fluorescence in situ hybridization (FISH). A 38-year-old Caucasian 
      female presented for amniocentesis for maternal age. Initial chromosome analysis 
      of the amniocytes using GTG-banding showed a mos47,XY, +?i(12p)/46,XY karyotype. 
      Follow-up studies with FISH identified the isochromosome as an i(21q); mos47,XY, 
      +i(21q)/46,XY. The patient was delivered at 38+ weeks gestation and umbilical 
      cord blood samples were obtained. Chromosome analysis of 43 cord blood 
      lymphocytes demonstrated a 46,XY karyotype in all cells. However, peripheral 
      lymphocytes taken 1 day after birth showed 1 out of 120 lymphocytes to have an 
      extra chromosome determined to be an i(21q). While initial clinical exam of the 
      neonate revealed similarities to Down syndrome, long-term follow up of our 
      patient will be required to provide the first definitive description of the 
      mosaic tetrasomy 21 syndrome.
FAU - Nagarsheth, N P
AU  - Nagarsheth NP
AD  - The Mount Sinai School of Medicine, The Mount Sinai Medical Center, New York, NY 
      10029, USA. nn@doc.mssm.edu
FAU - Mootabar, H
AU  - Mootabar H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - *Chromosome Aberrations
MH  - *Chromosome Disorders
MH  - *Chromosomes, Human, Pair 21
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - *Prenatal Diagnosis
EDAT- 1997/04/01 00:00
MHDA- 1997/04/01 00:01
CRDT- 1997/04/01 00:00
PHST- 1997/04/01 00:00 [pubmed]
PHST- 1997/04/01 00:01 [medline]
PHST- 1997/04/01 00:00 [entrez]
AID - 10.1111/j.1399-0004.1997.tb02466.x [doi]
PST - ppublish
SO  - Clin Genet. 1997 Apr;51(4):260-3. doi: 10.1111/j.1399-0004.1997.tb02466.x.