Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.
نویسندگان
چکیده
منابع مشابه
Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings.
We describe a stillborn female infant with severe intrauterine growth retardation and multiple congenital anomalies. She was found to have a deletion of 13q22----qter and trisomy of 18p11.2----pter, resulting from a maternal balanced translocation.
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A male infant with partial trisomy 6q is described. This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation. In addition, visceral anomalies less frequently reported are described. These observations may extend the phenot...
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We examined a girl presenting neuropsychomotor developmental delay and multiple malformations including antenatal and postnatal growth retardation, congenital heart defect, and facial dysmorphisms. Cytogenetic analysis was performed on peripheral blood lymphocytes with the GTG-banding technique, which revealed an unbalanced translocation: 46,XX,der(13)(13pter→13q34::3p24→3pter)pat. Karyotype an...
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A case of partial trisomy 10q with partial monosomy 12q is reported. The chromosomal abnormalities resulted from a paternal balanced, reciprocal translocation involving chromosomes 10 and 12, which, to the best of our knowledge, has not been previously described.
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To the Editor: Omphalocele is not an uncommon malformation; however, it usually occurs sporadically with less than a 1% recurrence risk (Winter & Baraitser 1991 ). We present recurrence of omphalocele in siblings with partial trisomy 3q and partial monosomy 1 lq as the unbalanced product of a t (3; 1 1 ) (q21;q23)mat. This was the fourth pregnancy of an unrelated couple. The mother had one heal...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1986
ISSN: 1468-6244
DOI: 10.1136/jmg.23.3.260