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A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
(ElsevierAmsterdam, 2012)
Interstitial 1q42-q44 deletion defined by fish in a short-lived female
(2008)
We report a female newborn with a de novo 1q4 deletion ascertained by G bands but refined as an interstitial one by FISH with a subtelomeric 1q probe; hence, the final karyotype was 46,XX,del(1)(q42q44).ish subtellq x 2. ...
Interstitial 1q42-q44 deletion defined by fish in a short-lived female
(2008)
We report a female newborn with a de novo 1q4 deletion ascertained by G bands but refined as an interstitial one by FISH with a subtelomeric 1q probe; hence, the final karyotype was 46,XX,del(1)(q42q44).ish subtellq x 2. ...
Isolated interstitial 9q deletion in a case of unclassifiable myelodysplastic syndrome
(Elsevier B.V., 2004-09-01)
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
(WILEY-BLACKWELLHOBOKEN, 2012)
We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the ...
Genomic imprinting and human chromosome 15
(Sociedad de Biología de Chile, 2001)
Genomic imprinting and human chromosome 15
(SOCIEDAD BIOLGIA CHILE, 2001)
Genomic imprinting is a reversible phenomenon that affects the expression of genes depending on their parental origin, The best characterized human disorders resulting from an alteration Of the imprinting process are ...
Interstitial deletion 6q16.2q22.2 in a child with ectrodactyly [Deletion interstitielle 6q16.2q22.2 chez un enfant ayant une ectrodactylie]
(1996)
A boy of 16 months of age with psychomotor retardation, short stature, microbrachycephaly, triangular face, microphthalmia, palpebral fissures slanted downward, cardiopathy, simian crease on left hand, agenesis of fourth ...
Interstitial deletion 6q16.2q22.2 in a child with ectrodactyly [Deletion interstitielle 6q16.2q22.2 chez un enfant ayant une ectrodactylie]
(1996)
A boy of 16 months of age with psychomotor retardation, short stature, microbrachycephaly, triangular face, microphthalmia, palpebral fissures slanted downward, cardiopathy, simian crease on left hand, agenesis of fourth ...