Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality
Terminal 11q deletion, known as Jacobsen syndrome (JBS), is a rare genetic disorder associated with numerous dysmorphic features. We studied two cases with multiple congenital anomalies that were cytogenetically detected with deletions on 11q encompassing JBS region: 46,XX,der(11) del(11)(q24). Arra...
Main Authors: | Frenny J. Sheth, Chaitanya Datar, Joris Andrieux, Anand Pandit, Darshana Nayak, Mizanur Rahman, Jayesh J. Sheth |
---|---|
Format: | Article |
Language: | English |
Published: |
SAGE Publishing
2014-01-01
|
Series: | Clinical Medicine Insights: Pediatrics |
Online Access: | https://doi.org/10.4137/CMPed.S18121 |
Similar Items
-
Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality
by: Frenny J. Sheth, et al.
Published: (2014-09-01) -
A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
by: Vermeesch Joris, et al.
Published: (2009-11-01) -
Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India
by: Jayesh Sheth, et al.
Published: (2018-07-01) -
Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report
by: Harsh Sheth, et al.
Published: (2020-09-01) -
Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)
by: Peitsidis Panagiotis, et al.
Published: (2009-12-01)