6q1 monosomy: a distinctive syndrome.
A female infant with a de novo del 6q14q16.2 and five other patients with del 6q1 reported in the literature allow the delineation of a characteristic syndrome, the main features of which are: severe mental retardation, a round face with full cheeks, upslanting palpebral fissures, a short neck, umbilical hernia, malpositioned feet with syndactyly II-III, and typical dermatoglyphics with an excess of whorls and clinodactyly of the Vth finger.
Turleau
C
C
INSERM U.173, UA.119 CNRS, Hôpital Necker-Enfants-Malades, Paris, France.
Demay
G
G
Cabanis
M O
MO
Lenoir
G
G
de Grouchy
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D009006:Monosomy; D010641:Phenotype; D013577:Syndrome