๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Antenatal diagnosis of a de novo reciprocal translocation 46,XX,t(3;7)(q21;q11)

โœ Scribed by P. Husslein; W. Schnedl; P. Wagenbichler


Publisher
Springer
Year
1979
Tongue
English
Weight
211 KB
Volume
51
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

โœฆ Synopsis


A de novo reciprocal translocation 46,XX,t(3;7)(q21;q11), detected at amniocentesis performed because of advanced maternal age, is presented. Both parents showed a normal karyotype. The girl was delivered and has shown no phenotypic abnormality in the first year after birth. Problems encountered with the prediction of the fetal outcome in balanced structural rearrangements are discussed.


๐Ÿ“œ SIMILAR VOLUMES


Congenital scoliosis (hemivertebra) asso
โœ Imaizumi, Kiyoshi; Masuno, Mitsuo; Ishii, Takuma; Kuroki, Yoshikazu; Okuzumi, Na ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 10 KB ๐Ÿ‘ 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

Isolated bilateral anophthalmia in a gir
โœ Driggers, Rita W.; Macri, Charles J.; Greenwald, Jeffrey; Carpenter, David; Aval ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 9 KB ๐Ÿ‘ 3 views

Primary anophthalmos is a heterogeneous condition. In its nonsyndromal form, it is usually considered an autosomal recessive trait. However, other causes such as chromosomal abnormalities and prenatal insults need to be considered. We report on a unique reciprocal translocation 46,XX,t(3;11)(q27;p11

Asplenia syndrome in a child with a bala
โœ Freeman, Sallie B.; Muralidharan, Kasinathan; Pettay, Dorothy; Blackston, R. Dwa ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 25 KB ๐Ÿ‘ 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