Add to ORKGInterstitial deletions of the long arm of chromosome 5 involving the region 5q33.1-q34 are rare occurrences. The clinical features of patients carrying similar deletions include dysmorphic facial features, such as epicanthus, retrognatia, protruding left ear and asymmetric mouth, high-arched palate, four inger lines and clinodactyly of digits II and V on both hands. We report on a female child aged 13 presenting with development delay, agenesis of the corpus callosum, hallux diverted into, clinodactyly of 3rd, 4th and 5th ingers, obesity, hepatic steatosis, vesicular lithyasis and bilateral macular changes. Classical karyotyping using high resolution GTG banding revealed a de novo complex rearrangement including three abnormal chromosomes:...
A case with de novo interstitial deletion of chromosome 7q21.1-q22: A patient with multiple congenit...
Background: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including...
Interstitial deletions of chromosome band 4q32 are rare. We report on a 22-year-old female patient w...
Interstitial deletions of the long arm of chromosome 5 involving the region 5q33.1-q34 are rare occu...
We report a -year-old boy with a constitutional interstitial deletion of 5q,46,XY,del(5)(q23.3q31.2)...
Deletion is loss of a chromosome segment, resulting in chromosomeimbalance. High-resolution banding ...
Complex chromosome rearrangements (CCR's) involving multiple breaks in two or more chromosomes are r...
A 10(6/12)-year-old boy was referred to the genetics department because of mental retardation and dy...
We report a -year-old boy with a constitutional interstitial deletion of 5q,46,XY,del(5)(q23.3q31.2)...
An 8-year-old girl revealed the karyotype 46, XX,del(l)(q21 → q25). Both parents had normal chromoso...
International audienceInterstitial deletions of the long arm of chromosome 12 are rare rearrangement...
Introduction: Complex rearrangements resulting in inverted duplications contiguous to a terminal del...
Background: Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) ...
Item does not contain fulltextWe report on the clinical and cytogenetic data of a large family with ...
BACKGROUND: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including...
A case with de novo interstitial deletion of chromosome 7q21.1-q22: A patient with multiple congenit...
Background: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including...
Interstitial deletions of chromosome band 4q32 are rare. We report on a 22-year-old female patient w...
Interstitial deletions of the long arm of chromosome 5 involving the region 5q33.1-q34 are rare occu...
We report a -year-old boy with a constitutional interstitial deletion of 5q,46,XY,del(5)(q23.3q31.2)...
Deletion is loss of a chromosome segment, resulting in chromosomeimbalance. High-resolution banding ...
Complex chromosome rearrangements (CCR's) involving multiple breaks in two or more chromosomes are r...
A 10(6/12)-year-old boy was referred to the genetics department because of mental retardation and dy...
We report a -year-old boy with a constitutional interstitial deletion of 5q,46,XY,del(5)(q23.3q31.2)...
An 8-year-old girl revealed the karyotype 46, XX,del(l)(q21 → q25). Both parents had normal chromoso...
International audienceInterstitial deletions of the long arm of chromosome 12 are rare rearrangement...
Introduction: Complex rearrangements resulting in inverted duplications contiguous to a terminal del...
Background: Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) ...
Item does not contain fulltextWe report on the clinical and cytogenetic data of a large family with ...
BACKGROUND: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including...
A case with de novo interstitial deletion of chromosome 7q21.1-q22: A patient with multiple congenit...
Background: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including...
Interstitial deletions of chromosome band 4q32 are rare. We report on a 22-year-old female patient w...