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Tertiary trisomy 14q-, due to paternal balanced translocation 46,XY,t(1;14)(q44;q22)

✍ Scribed by Gy. Kovacs; Clara Mihai


Publisher
Springer
Year
1979
Tongue
English
Weight
214 KB
Volume
49
Category
Article
ISSN
0340-6717

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✦ Synopsis


Retardation of growth and mental development, craniofacial dysmorphy, limb anomalies, cryptorchidism and repeated infections are observed in a child with 47,XY,+der(14),t(1;14)(q44;q22)pat.


πŸ“œ SIMILAR VOLUMES


Partial trisomy 14q due to familial t(14
✍ J. P. Fryns; M. Eygen; W. Tanghe; H. Berghe πŸ“‚ Article πŸ“… 1977 πŸ› Springer 🌐 English βš– 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.

Tertiary trisomy, 47,XX,+14q-, resulting
✍ S. Robert Young; Denis M. Donovan; Harry A. Greer; Kay Burch; David C. Potter πŸ“‚ Article πŸ“… 1976 πŸ› Springer 🌐 English βš– 693 KB

A 3-year-old child with tertiary trisomy (14 (+14q--), daughter of a mother with a balanced reciprocal translocation [46,XX,t(14;16)(q11;q24) is presented. Craniostenosis and developmental retardation were the primary presenting features in this patient.

3:1 Meiotic disjunction in a mother with
✍ Abeliovich, Dvorah ;Yagupsky, Pablo ;Bashan, Nava ;Opitz, John M. πŸ“‚ Article πŸ“… 1982 πŸ› John Wiley and Sons 🌐 English βš– 439 KB πŸ‘ 1 views

## Abstract We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndr