title: Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: phenotypic and genotypic findings.
abstract: Terminal 7q duplication and terminal 13q deletion are two conditions with variable phenotypes including microcephaly, thumb a-/hypoplasia, cortical dysplasia, microphtalmia, intellectual disability and dysmorphic features. We describe a boy born to a mother with a reciprocal t (7;13) who combines both a terminal 7q33-qter duplication and terminal 13q33-qter deletion through the inheritance of a derivative chromosome 13 (der (13)). The patient presented with developmental delay, facial and non-facial dysmorphic features, hypertonia, genital abnormality and skeletal malformation but no thumb a-/hypoplasia or microphtalmia. Knowing the exact breakpoints of his chromosomal aberrations using high resolution array CGH (aCGH) and comparison of his phenotypes with those of 24 and 59 previously published cases of 7q duplication and 13q deletion, respectively, allow us to further narrow the size of the proposed critical regions for microcephaly, thumb a-/hypoplasia and hypo/hypertonia on chromosome 13.
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Azadeh
authors.initials: A
authors.lastname: Shojaei
authors.forename: Farkhondeh
authors.initials: F
authors.lastname: Behjati
authors.forename: Pupak
authors.initials: P
authors.lastname: Derakhshandeh-Peykar
authors.forename: Maryam
authors.initials: M
authors.lastname: Razzaghy-Azar
authors.forename: Hasan
authors.initials: H
authors.lastname: Otukesh
authors.forename: Roxana
authors.initials: R
authors.lastname: Kariminejad
authors.forename: Mohammad-Ali
authors.initials: MA
authors.lastname: Dowlati
authors.forename: Ali
authors.initials: A
authors.lastname: Rashidi-Nezhad
authors.forename: Javad
authors.initials: J
authors.lastname: Tavakkoly-Bazzaz
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D046468:Sexual Development / Q000235:genetics*; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics