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1.
J Genet ; 2020 Sep; 99: 1-4
Article | IMSEAR | ID: sea-215488

Résumé

We report a rare case of a 14-month-old male child who was referred for developmental delay. Clinical examination revealed a hypotonic infant with speech delay and no dysmorphic features. The banding cytogenetics revealed a small supernumerary marker chromosome. Upon silver staining, the marker showed the presence of satellite regions on either ends. Further, analysis using fluorescence in situ hybridization on marker chromosome revealed its origin from chromosome 15.

2.
Indian J Hum Genet ; 2011 Sept; 17(3): 241-243
Article Dans Anglais | IMSEAR | ID: sea-138972

Résumé

Isochromosome is a structurally unbalanced chromosome consisting of two short arms or two long arms, which are derived by abnormal centromere division or sister-chromatid exchange. Most autosomal isochromosomes are unusual, while those involving sex chromosomes are common. Kabuki syndrome (KS, OMIM 147920) is a multiple malformation/mental retardation syndrome of unknown etiology. A conventional cytogenetic study on lymphocytes from a 4-year-old girl with physical features suggestive of KS was found to have mosaicism for isochromosome for the long arm of the X. Although most manifestations present in this patient have been described before, this report is a rare association of clinical and cytogenetic findings in this syndrome. A genome-wide analysis and a larger number of patient groups studied could improve our understanding of the genetic basis of KS.


Sujets)
Malformations multiples/génétique , Enfant d'âge préscolaire , Cytogénétique , Face/malformations , Hémopathies/génétique , Femelle , Humains , Chromosomes sexuels/génétique , Maladies vestibulaires/génétique , Chromosome X/malformations , Chromosome X/génétique
3.
Indian J Pediatr ; 2009 Mar; 76(3): 313-4
Article Dans Anglais | IMSEAR | ID: sea-79863

Résumé

Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and sensorineural deafness. We report a 4-year-old girl with TRMA whose anemia improved following administration of thiamine and this case report sensitizes the early diagnosis and treatment with thiamine in children presenting with anemia, diabetes and deafness.


Sujets)
Anémie mégaloblastique/complications , Anémie mégaloblastique/diagnostic , Anémie mégaloblastique/traitement médicamenteux , Anémie mégaloblastique/génétique , Glycémie/métabolisme , Enfant d'âge préscolaire , Diabète de type 1/complications , Diabète de type 1/génétique , Femelle , Études de suivi , Surdité neurosensorielle/complications , Surdité neurosensorielle/génétique , Humains , Syndrome , Thiamine/usage thérapeutique
4.
Indian J Pediatr ; 2004 Jun; 71(6): 563-4
Article Dans Anglais | IMSEAR | ID: sea-80831

Résumé

A 2-year-old boy presented with low-grade fever and multiple progressive painful swellings over upper dorsal trunk and supraclavicular region with progressive stiffening of skin for the last 2 months. Examination revealed dysmorphic face, proximally placed thumb and bilateral hallux valgus. Hence, a diagnosis of Fibrodysplasia Ossificans Progressiva was entertained.


Sujets)
Fièvre , Hallux/malformations , Humains , Nourrisson , Mâle , Myosite ossifiante/diagnostic , Douleur
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