Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies.
We describe a 4-year-old boy with an interstitial deletion of the long arm of chromosome 10: del(10) (q11.2q22.1). Frontal bossing, hypertelorism, bright blue iris color, up-slanting palpebral fissures, a flat nasal bridge, a broad nose, apparently low-set ears, micrognathia, deep philtrum, and hypotonia were noted neonatally. A murmur was noted at age 5 1/2 months and surgical repair of subaortic stenosis was required at 4 years. At 4 years micrognathia was no longer evident, but the palate was high-arched. The pattern of abnormalities included postnatal-onset slow growth, short stature, mental retardation, and cardiac anomalies.
Zenger-Hain
J L
JL
Medical Genetics and Birth Defects Center, Henry Ford Hospital, Detroit, MI 48202.
Roberson
J
J
Van Dyke
D L
DL
Weiss
L
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002879:Chromosomes, Human, Pair 10; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male