We report on a mother and child with a paracentric inversion of the long arm of chromosome 18: 46,XX,inv( )(q21.1q23). The child had findings in common with those seen in 18q-syndrome including: microcephaly, epicanthal folds, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on
β¦ LIBER β¦
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation
β Scribed by Mohamed Ali Mosrati; Isabelle Schrauwen; Hassen Kamoun; Ilhem Charfeddine; Erik Fransen; Abdelmonem Ghorbel; Guy Van Camp; Saber Masmoudi
- Book ID
- 119241380
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 691 KB
- Volume
- 510
- Category
- Article
- ISSN
- 0378-1119
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Chromosome 18q paracentric inversion in
β
Keppler-Noreuil, Kim M.; Carroll, Andrew J.; Finley, Sara C.; Descartes, Maria;
π
Article
π
1998
π
John Wiley and Sons
π
English
β 32 KB
π 2 views
Clinical and molecular genetic analysis
β
Anand N. Mhatre; Sandra Janssens; Michael A. Nardi; Yan Li; Anil K. Lalwani
π
Article
π
2009
π
Elsevier Science
π
English
β 465 KB
X-inactivation and cytogenetic studies i
β
Nancy Sculerati; Mary Ann Perle; Harry Ostrer
π
Article
π
1995
π
SAGE Publications
π
English
β 110 KB
X-inactivation and cytogenetic studies i
β
NANCY SCULERATI; MARY ANN PERLE; CAROL ODDOUX; C.MARK CLAYTON; HARRY OSTRER
π
Article
π
1997
π
SAGE Publications
π
English
β 811 KB
De novo 9 Mb deletion of 6q23.2q24.1 dis
β
VΓ©ronique Dutrannoy; Eva Klopocki; Ran Wei; Christiane Bommer; Stefan Mundlos; L
π
Article
π
2009
π
Elsevier Science
π
English
β 557 KB
Linkage analysis in a large family with
β
Glass, I. A. ;White, E. M. ;Pope, M. J. ;Pirrit, L. A. ;Cockburn, F. ;Connor, J.
π
Article
π
1991
π
John Wiley and Sons
π
English
β 629 KB
We report on a large 5-generation family with "nonspecific" X-linked mental retardation. Nine living affected males have an I& between 50 and 70 but have normal stature, facial appearance, and testicular volumes and no other abnormalities. Two obligate carrier females had borderline intellectual abi