title: Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss.
abstract: We present the postnatal diagnosis of a de novo der(18)t(18;22)(p11.32;q11.21)pat, resulting in an unbalanced 45,XX,der (18)t(18;22) karyotype in a girl with conductive hearing loss on the left and ptosis of the right upper eye-lid. Unilateral ptosis was also observed in the patient's 2 years and 8 months younger sister, who grows noticeably faster and appears to be a much quicker learner. After speech therapy the patient was eventually placed in normal school. The haploinsufficient 16.4-Mb region on chromosome 22pter-->q11.21 contains 10 genes as well as many predicted genes, pseudogenes, and retrotransposed sequences with unknown functions. This observation may prove useful for prenatal diagnosis and genetic counselling of chromosome 22q11.1 gains and losses.
authors.affiliation: Institute for Human Genetics, Johannes Gutenberg University, Mainz, Germany.
authors.forename: N
authors.initials: N
authors.lastname: Damatova
authors.forename: V
authors.initials: V
authors.lastname: Beyer
authors.forename: D
authors.initials: D
authors.lastname: Galetzka
authors.forename: E
authors.initials: E
authors.lastname: Schneider
authors.forename: U
authors.initials: U
authors.lastname: Napiontek
authors.forename: A
authors.initials: A
authors.lastname: Keilmann
authors.forename: U
authors.initials: U
authors.lastname: Zechner
authors.forename: O
authors.initials: O
authors.lastname: Bartsch
authors.forename: T
authors.initials: T
authors.lastname: Haaf
mesh_terms: D002887:Chromosomes, Human, Pair 18; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006239:Haplotypes; D046088:Hearing Loss, Unilateral / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D013060:Speech