PMID- 24778567
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20140429
LR  - 20211021
IS  - 1311-0160 (Print)
IS  - 1311-0160 (Linking)
VI  - 16
IP  - 2
DP  - 2013 Dec
TI  - Molecular Cytogenetic Characterization of an inv(Y)(p11.2q11.221 approximately q11.222) in a 
      Syrian Family.
PG  - 73-6
LID - 10.2478/bjmg-2013-0035 [doi]
AB  - Constitutional chromosomal abnormalities are an important cause of miscarriage, 
      infertility, congenital anomalies and mental retardation in humans. Pericentric 
      inversions of the human Y-chromosome [inv(Y)] are rather common and show an 
      estimated incidence of 0.6-1:1,000 in males in the general population. Most of 
      the reported cases with inv(Y) are familial. For carriers of pericentric 
      inversions the risk of mental retardation or multiple abortions is not apparently 
      increased and there is no relation with abnormal phenotypic features. Polymerase 
      chain reaction (PCR) analysis to detect microdeletions along the Y-chromosome as 
      well as cytogenetic and fluorescence in situ hybridization (FISH) analysis were 
      done to delineate the characteristics of an inv(Y) in a Syrian family. Thus, we 
      present a detailed molecular-cytogenetic characterization of a father and his two 
      sons having an inv(Y)(p11. 2q11.221 approximately q11.222) with varying mental retardation 
      features but otherwise normal phenotype.
FAU - Al-Achkar, W
AU  - Al-Achkar W
AD  - Department of Molecular Biology and Biotechnology, Division of Human Genetics, 
      Atomic Energy Commission of Syria, Damascus, Syria.
FAU - Wafa, A
AU  - Wafa A
AD  - Department of Molecular Biology and Biotechnology, Division of Human Genetics, 
      Atomic Energy Commission of Syria, Damascus, Syria.
FAU - Al-Ablog, A
AU  - Al-Ablog A
AD  - Department of Molecular Biology and Biotechnology, Division of Human Genetics, 
      Atomic Energy Commission of Syria, Damascus, Syria.
FAU - Moassass, F
AU  - Moassass F
AD  - Department of Molecular Biology and Biotechnology, Division of Human Genetics, 
      Atomic Energy Commission of Syria, Damascus, Syria.
FAU - Liehr, T
AU  - Liehr T
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Jena, Germany.
LA  - eng
PT  - Case Reports
PL  - Poland
TA  - Balkan J Med Genet
JT  - Balkan journal of medical genetics : BJMG
JID - 9806959
PMC - PMC4001419
OTO - NOTNLM
OT  - Ampli-conic fertility genes
OT  - Fluorescence in situ hybridization (FISH)
OT  - Inversion
OT  - Mental retardation
OT  - Y-Chromosome
EDAT- 2014/04/30 06:00
MHDA- 2014/04/30 06:01
PMCR- 2013/12/01
CRDT- 2014/04/30 06:00
PHST- 2014/04/30 06:00 [entrez]
PHST- 2014/04/30 06:00 [pubmed]
PHST- 2014/04/30 06:01 [medline]
PHST- 2013/12/01 00:00 [pmc-release]
AID - bjmg-16-02-73 [pii]
AID - 10.2478/bjmg-2013-0035 [doi]
PST - ppublish
SO  - Balkan J Med Genet. 2013 Dec;16(2):73-6. doi: 10.2478/bjmg-2013-0035.