𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Partial trisomy 13 (q14→qter) due to a familial translocation t(13;18)(q14;q23)

✍ Scribed by Peter Steinbach


Publisher
Springer
Year
1981
Tongue
English
Weight
79 KB
Volume
58
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Partial trisomy 14q due to familial t(14
✍ J. P. Fryns; M. Eygen; W. Tanghe; H. Berghe 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 281 KB

A malformed male newborn with partial trisomy for the distal part of the long arm chromosome 14 (14q23 leads to 14 qter) is described. This anomaly arose as a segregation product of a balanced t(14q-,11q+), translocation in the father.

Partial trisomy 4q: Two cases with a fam
✍ Mario Stella; Aldo Bonfante; Gianfranco Ronconi; Giovanni Rossi 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 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

Trisomy 9p due to paternal translocation
✍ A. Schinzel; K. Hayashi; W. Schmid 📂 Article 📅 1975 🏛 Springer 🌐 English ⚖ 635 KB

A 16-year-old girl with trisomy 9p is described. She had a short stature, severe mental retardation and the following abnormal clinical findings: peculiar face with hypertelorism, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper

Partial trisomy 13q21→qter de novo due t
✍ M. Habedank 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 531 KB

A female is described who has a karyotype with an additional distal half of 13q in a recombinant rec(13)dup q chromosome. Since her parents have normal karyotypes, the origin of her karyotype is assumed to be a premeiotic pericentric inversion de novo with crossing-over within the inversion loop at