PMID- 16440882
OWN - NLM
STAT- MEDLINE
DCOM- 20060404
LR  - 20060706
IS  - 1015-8146 (Print)
IS  - 1015-8146 (Linking)
VI  - 16
IP  - 4
DP  - 2005
TI  - Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter 
      syndromes.
PG  - 393-402
AB  - The co-occurrence of two numerical chromosomal abnormalities in same individual 
      (double aneuploidy) is relatively rare and its clinical presentations are 
      variable depending on the predominating aneuploidy or a combination effect of 
      both. Furthermore, double aneuploidy involving both autosomal and sex chromosomes 
      is seldom described. In this study, we present three patients with double 
      aneuploidy involving chromosome 21 and sex chromosomes. They all had the 
      classical non disjunction trisomy 21; that was associated with monosomy X in two 
      of them and double X in the other. Clinically, they had most of the phenotypic 
      features of Down syndrome as well as variable features characteristic of Turner 
      or Klinefelter syndrome. Cytogenetic studies and fluorescence in situ 
      hybridization (FISH) analysis were carried out for all patients and their 
      parents. The first patient was a male, mosaic with 2 cell lines (45,X/47,XY,+21) 
      by regular banding techniques and had an affected sib with Down syndrome 
      (47,XY,+21). The second was a female, mosaic (46,X,+21/47,XX,+21) where monosomy 
      X was detected only by FISH in 15 percentages of cells, nevertheless, stigmata of 
      Turner syndrome was more obvious in this patient. The third patient had non 
      mosaic double trisomy; Down-Klinefelter (48,XXY,+21) presented with Down syndrome 
      phenotype. Parental karyotypes and FISH studies for these patients were normal 
      with no evidence of mosaicism. In this report, we review the variable clinical 
      presentations among the few reported cases with the same aneuploidy in relation 
      to ours. Also, the proposed mechanisms of double aneuploidy and the occurrence of 
      non-disjunction in more than one family member are discussed. This study 
      emphasizes the importance of molecular cytogenetics studies for more than one 
      tissue in cases with atypical features of characteristic chromosomal aberration 
      syndromes. To our knowledge, this is the first report of double aneuploidy, 
      Down-Turner and Down-Klinefelter syndromes in Egyptian patients.
FAU - Zaki, M S
AU  - Zaki MS
AD  - Clinical Genetics Department, National Research Centre, Cairo, Egypt. 
      mszaki60@internetegypt.com
FAU - Kamel, A A
AU  - Kamel AA
FAU - El-Ruby, M
AU  - El-Ruby M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Switzerland
TA  - Genet Couns
JT  - Genetic counseling (Geneva, Switzerland)
JID - 9015261
SB  - IM
MH  - *Aneuploidy
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Cytogenetics/methods
MH  - Down Syndrome/*complications/*genetics
MH  - Egypt
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Klinefelter Syndrome/*complications/*genetics
MH  - Male
MH  - Phenotype
MH  - Turner Syndrome/*complications/*genetics
EDAT- 2006/01/31 09:00
MHDA- 2006/04/06 09:00
CRDT- 2006/01/31 09:00
PHST- 2006/01/31 09:00 [pubmed]
PHST- 2006/04/06 09:00 [medline]
PHST- 2006/01/31 09:00 [entrez]
PST - ppublish
SO  - Genet Couns. 2005;16(4):393-402.