Subtle familial translocation t[11:22][q24.2:q13.33] resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps

• Autorzy: Jamsheer A , Smyk M , Wierzba J , Kolowska J , Wozniak A , Skolozdrzy J , Fisher M , Latos-Bielenska A
• Języki publikacji: EN

Abstrakty

EN

We report on 3 kindred patients with terminal 11q monosomy and distal 22q trisomy involving the SHANK3 gene, resulting from a subtle familial translocation t(11;22)(q24.2;q13.33). The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects in 2 cases; and thrombocytopenia, brain abnormality, eye coloboma, recurrent infections, cryptorchidism and toe anomalies in single cases. The oldest patient also had Hashimoto disease and diabetes mellitus type 2. So far, these 2 conditions have not been reported in adult patients with JBS. Features typical for distal 22q trisomy in our patients include muscular hypotonia and prenatal failure to thrive, seen in 2 and 1 cases, respectively. We also present a family member with 11q24.2-qter trisomy and 22q13.33-qter monosomy, whose clinical phenotype is partially overlapping with several dysmorphic features of JBS. In addition, multiple pregnancy losses and infantile deaths occurred in this family, suggesting that these chromosomal imbalances may produce a lethal phenotype. FISH with a panel of BAC probes determined the accurate sizes of the deletion 11q (9.9 Mb) and trisomy 22q (0.8 Mb). To date, only 5 cases of submicroscopic 22q13.3-qter trisomy have been reported. A detailed clinical description of our patients, along with a precise cytogenetic designation of chromosomal breakpoints, allow further refinement of genotype-phenotype correlation for distal imbalances in 11q and 22q.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2008
• Tom: 49
• Numer: 4
• Opis fizyczny: p.397-405,fig.,ref.

Twórcy

autor

Jamsheer A

• Department of Medical Genetics, University of Medical Sciences in Poznan, Grunwaldzka 55, paw.15, 60-352 Poznan, Poland
• Center for Medical Genetics, Poznan, Poland

autor

Smyk M

• Department of Medical Genetics, Institute of Mother and Child, Warszawa, Poland

autor

Wierzba J

• Department of General Nursery and Department of Pediatrics, Hematology, Oncology and Endocrinology, Medical University of Gdańsk, Poland

autor

Kolowska J

• Center for Medical Genetics, Poznan, Poland

autor

Wozniak A

• Center for Medical Genetics, Poznan, Poland

autor

Skolozdrzy J

• Center for Medical Genetics, Poznan, Poland

autor

Fisher M

• Multidisciplinary Center for Pediatrics, Elbląg, Poland

autor

Latos-Bielenska A

• Center for Medical Genetics, Poznan, Poland
• Department of Medical Genetics, University of Medical Sciences in Poznan, Grunwaldzka 55, paw.15, 60-352 Poznan, Poland

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