title: Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay.
abstract: Female carriers of balanced translocations involving an X chromosome and an autosome offer genetic counselling challenges. This is in view of the number of possible meiotic outcomes, but also due to the impact of X chromosome-localised genes that are no longer subject to gene silencing through the X chromosome inactivation centre. We present a case where delineation of the extent of X chromosome-localised genes on the derivative autosome using molecular karyotyping offers critical information in the context of genetic counselling.
authors.affiliation: Diagnostic Genetics, LabPLUS, Auckland, New Zealand;
authors.forename: Karen L
authors.initials: KL
authors.lastname: Sheath
authors.forename: Roberto L
authors.initials: RL
authors.lastname: Mazzaschi
authors.forename: Salim
authors.initials: S
authors.lastname: Aftimos
authors.forename: Nerine E
authors.initials: NE
authors.lastname: Gregersen
authors.forename: Alice M
authors.initials: AM
authors.lastname: George
authors.forename: Donald R
authors.initials: DR
authors.lastname: Love
keywords: Case report; KAL-1 protein; New Zealand; Receptors, gastrin-releasing peptide; Trisomy; X chromosome inactivation; X chromosome, monosomy Xp22 pter