A family with three sisters with the 4p- syndrome, originally reported as suffering from the Smith-Lemli-Opitz syndrome.
The authors further describe investigations of a family originally reported by Bundey & Smyth in 1974 with a diagnosis of the Smith-Lemli-Opitz syndrome. Chromosome studies performed for the fourth time revealed that the mother had a presumptive t(4;22) translocation. The importance of reviewing earlier diagnoses, including repeating the chromosome studies if indicated, in order to arrive at a more accurate diagnosis is stressed. It is also important to provide the cytogenetics laboratory with clues to any possible clinically-recognisable chromosome syndrome, and to be prepared to examine the chromosomes of the parents of the affected case, even if the patient's karyotype appears normal. In this particular family, the correct diagnosis in the affected girls led to a realization that their brother had a 50% risk of producing unbalanced offspring.
Hill
S
S
Regional Cytogenetics Laboratory, East Birmingham Hospital, England.
Creasy
M
M
Bundey
S
S
D000293:Adolescent; D000328:Adult; D001763:Blepharoptosis / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006760:Hospitalization; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D013577:Syndrome