Background: Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed. Results: Here we present a case study of a 5-year-old girl with de novo submicroscopic deletion of chromosome 11q22.3 with mild mental retardation and facial dysmorphism. A standard cytogenetic analysis did not reveal any structural aberrations. A contrary array-CGH analysis indicated a small deletion of 11q22.3. Discussion: To our knowledge, this is the smallest 11q22.3 deletion reported in literature, containing nine RefSeq genes. Although none of the...
Deletions of chromosome bands 2p11.2 and 2p12 are rare, and only six patients have been reported to ...
The phenotypes associated with subtle deletions of the subtelomeric regions of many chromosomes have...
[[abstract]]We report a neonate with pure deletion of distal 11q (11q23.3-->qter) and Jacobsen syndr...
Interstitial deletions of the long arm of chromosome 11 are rare, and they could be assumed as non-r...
Background: Jacobsen syndrome is a rare contiguous gene disorder that results from ...
Background: Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and ...
Few reports of small interstitial chromosome 11q deletions are reported in the literature and no cle...
Two cases, a boy and a girl, with the 11q-(Jacobsen) syndrome are reported. Findings common to both ...
Jacobsen syndrome (JBS) is a haploinsufficiency syndrome caused by partial deletion of the long arm ...
We report a case of an interstitial chromosome 20q11.21 microdeletion in a 7-year-old male child pre...
BACKGROUND: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including...
Background: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including...
Deletions of chromosome bands 2p11.2 and 2p12 are rare, and only six patients have been reported to ...
We report on a 2-year-old dysmorphic girl with prenatal and postnatal growth deficiency, cardiopathy...
Constitutional 11q deletion is a chromosome imbalance possibly found in MCA/MR patients analyzed for...
Deletions of chromosome bands 2p11.2 and 2p12 are rare, and only six patients have been reported to ...
The phenotypes associated with subtle deletions of the subtelomeric regions of many chromosomes have...
[[abstract]]We report a neonate with pure deletion of distal 11q (11q23.3-->qter) and Jacobsen syndr...
Interstitial deletions of the long arm of chromosome 11 are rare, and they could be assumed as non-r...
Background: Jacobsen syndrome is a rare contiguous gene disorder that results from ...
Background: Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and ...
Few reports of small interstitial chromosome 11q deletions are reported in the literature and no cle...
Two cases, a boy and a girl, with the 11q-(Jacobsen) syndrome are reported. Findings common to both ...
Jacobsen syndrome (JBS) is a haploinsufficiency syndrome caused by partial deletion of the long arm ...
We report a case of an interstitial chromosome 20q11.21 microdeletion in a 7-year-old male child pre...
BACKGROUND: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including...
Background: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including...
Deletions of chromosome bands 2p11.2 and 2p12 are rare, and only six patients have been reported to ...
We report on a 2-year-old dysmorphic girl with prenatal and postnatal growth deficiency, cardiopathy...
Constitutional 11q deletion is a chromosome imbalance possibly found in MCA/MR patients analyzed for...
Deletions of chromosome bands 2p11.2 and 2p12 are rare, and only six patients have been reported to ...
The phenotypes associated with subtle deletions of the subtelomeric regions of many chromosomes have...
[[abstract]]We report a neonate with pure deletion of distal 11q (11q23.3-->qter) and Jacobsen syndr...