MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/14q duplication.
In this report we present the clinical history and findings in a female newborn with 4q deficiency/14q duplication, the unbalanced product of a paternal t(4;14)(q33;q32). The clinical symptoms and signs observed in this child up to the age of 14 months were most compatible with the diagnosis of Hallermann-Streiff syndrome.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Borghgraef
M
M
Lemmens
F
F
van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D002894:Chromosomes, Human, Pair 4; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D009306:Natal Teeth; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014178:Translocation, Genetic