Deletion of long arms of chromosome 13
Copyright policy )Deletion of long arms of chromosome 13
The case is presented of a girl with the banded karyotype 46,XX,del(13)(q22) and a phenotype of severe mental and growth deficiency, mongoloid slant of palpebral fissures, ptosis, hypertelorism, microcephaly, microstomia, micrognathia, nystagmus, gothic palate, uvula fissa, low-set malformed ears, short fingers, pedes excavati, dislocation of hips and diabetes insipidis. Both parents have a normal phenotype and karyotype.
Chromosome Aberrations, Phenotype, Intellectual Disability, Karyotyping, Humans, Infant, Abnormalities, Multiple, Female, Chromosomes, Human, 13-15, Growth Disorders
Chromosome Aberrations, Phenotype, Intellectual Disability, Karyotyping, Humans, Infant, Abnormalities, Multiple, Female, Chromosomes, Human, 13-15, Growth Disorders
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