Partial trisomy 17p12pter, associated with pre and postnatal growth retardation, dysmorphic facial and digital features, developmental delay, and signs of HMSN1 in early childhood.
Vogt
J
J
Hill
S
S
Brueton
L
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005385:Fingers / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D014034:Toes / Q000002:abnormalities; D014178:Translocation, Genetic