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Partial trisomy 4q: Two cases resulting from a familial translocation t(4;18)(q27;p11)

โœ Scribed by A. Bonfante; M. Stella; G. Rossi

Publisher
Springer
Year
1979
Tongue
English
Weight
265 KB
Volume
52
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

Partial trisomy of the long arm of chromosome 4 was observed in two related patients, a child aged 2 years and a woman aged 42. Cytogenetic investigation revealed that their chromosome anomalies were due to segregation of a familial balanced translocation t(4;18)(q27;p11). Some clinical and cytogenetic considerations are noted.

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Partial trisomy 4q: Two cases with a fam
Partial trisomy 4q: Two cases with a familial translocation t(4;18)(q27;q23)
โœ Mario Stella; Aldo Bonfante; Gianfranco Ronconi; Giovanni Rossi ๐Ÿ“‚ Article ๐Ÿ“… 1979 ๐Ÿ› Springer ๐ŸŒ English โš– 353 KB

Clinical and cytogenetic data of two related patients, both trisomic for the segment 4q27 to qter, are reported. Familial studies determined that the mothers of the two probands were carriers of the same balanced translocation between chromosomes 4 and 18. Altogether, two partial trisomies 4q, five

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A genetics evaluation was requested for a 6-week-old infant with multiple congenital malformations including mild craniofacial anomalies, truncal hypotonia, hypospadias, and a ventriculoseptal defect. Blood obtained for chromosome analysis revealed an abnormal chromosome 4. Paternal chromosome analy