Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
<p>Abstract</p> <p>Background</p> <p>Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments.</p> <p>Case Presentation</p>...
Saved in:
Main Authors: | Meck Jeanne M (Author), Brooks Brian P (Author), Haddad Bassem R (Author), Bendavid Claude (Author), Blain Delphine (Author), Toretsky Jeffrey A (Author) |
---|---|
Format: | Book |
Published: |
BMC,
2006-01-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q
by: Shuang Zhang, et al.
Published: (2023) -
Prenatal diagnosis of partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31→qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester
by: Chih-Ping Chen, et al.
Published: (2012) -
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter)
by: Chih-Ping Chen, et al.
Published: (2016) -
A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)
by: Grigory S. Vasilyev, et al.
Published: (2016) -
A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings
by: Simona Farcas, et al.
Published: (2019)