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Trisomy/partial monosomy mosaicism of no. 13 pair [46, XX, −13, +rob(13q13q)/46, XX, r(13) (p11q34)]

✍ Scribed by Shigehiro Oka; Yasuo Nakagome; Fumio Teramura; Fumitoshi Hosono; Masataka Katumata

Publisher
Nature Publishing Group
Year
1977
Tongue
English
Weight
752 KB
Volume
22
Category
Article
ISSN
1435-232X

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📜 SIMILAR VOLUMES

Mosaic 13 trisomy due to de novo 13/13 t
Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission karyotype: 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del(13)(p11)
✍ J. P. Fryns; P. Casaer; H. Berghe 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 254 KB

A severely retarded child with multiple malformations was found to present a mosaic karyotype 46,XX, - 13,+t(13;13)(p11;q11)/46,XX,del(13)(p11), which probably originated as the result of a de novo 13/13 translocation in a parental gamete, followed by postzygotic fission of the translocation chromos

Asplenia syndrome in a child with a bala
Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)]
✍ Freeman, Sallie B.; Muralidharan, Kasinathan; Pettay, Dorothy; Blackston, R. Dwa 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 3 views

We present a 6-year-old girl with a balanced 11;20 translocation [46,XX,t(11;20)(q13.1; q13.13)patl, asplenia, pulmonic stenosis, Hirschsprung disease, minor anomalies, and mental retardation. This case represents the second report of an individual with situs abnormalities and a balanced chromosome

Congenital scoliosis (hemivertebra) asso
Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2)
✍ Imaizumi, Kiyoshi; Masuno, Mitsuo; Ishii, Takuma; Kuroki, Yoshikazu; Okuzumi, Na 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 3 views

We report on an 8-year-old girl with congenital scoliosis (segmented hemivertebra between the second and third lumbar vertebrae) and psychomotor developmental delay. She has a de novo reciprocal translocation, t(13;17)(q34;p11.2). Congenital scoliosis is one type of structural spine deformation and

3:1 Meiotic disjunction in a mother with
3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring
✍ Abeliovich, Dvorah ;Yagupsky, Pablo ;Bashan, Nava ;Opitz, John M. 📂 Article 📅 1982 🏛 John Wiley and Sons 🌐 English ⚖ 439 KB 👁 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