Document Detail

Combined trisomy 9P and Shprintzen syndrome resulting from a paternal t(9;22).
MedLine Citation:
PMID:  11491308     Owner:  NLM     Status:  MEDLINE    
The authors report on a female infant with partial trisomy 9 (pter-->q12) together with partial monosomy 22 (pter-->q11.23) that included DiGeorge critical region (DGCR), as a result of adjacent-2 disjunction. In addition to the clinical features characteristic of trisomy 9p syndrome, the patient had Truncus arteriosus type A2, bilateral hydronephrosis, palatal anomaly, retrognathia, and laryngeal hypotonia, which are likely to be attributed to 22q11.2 deletion. This patient appears to be the first reported case with such unbalanced translocation resulting from a paternal reciprocal translocation. For live birth, the risk for male carrier is 8.7-17.4%. It is important to consider this higher risk when counseling. Precise study concerning the presence of the DGCR can facilitate in the better understanding of the condition.
H Komatsu; A Kihara; E Komura; N Mitsufuji; H Tsujii; S Kakita; H Ikuta
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  12     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2001  
Date Detail:
Created Date:  2001-08-08     Completed Date:  2002-01-28     Revised Date:  2006-07-06    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  137-43     Citation Subset:  IM    
Department of Pediatrics, Kyoto First Red Cross Hospital, Japan.
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MeSH Terms
Abnormalities, Multiple / genetics*
Chromosomes, Human, Pair 22*
Chromosomes, Human, Pair 9*
In Situ Hybridization, Fluorescence
Translocation, Genetic*

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