~Teachingcenter的醫學筆記~

Deletions

Syndrome

Clinical manifestations

7q11.23

Williams

Round face with full cheeks and lips, stellate pattern in iris, strabismus, supravalvular aortic stenosis and other cardiac malformations, varying degrees of mental retardation, friendly personality

15q11-q13
(paternal)

Parder-Willi

Severe hypotonia at birth, obesity, short stature (due to low growth hormone), small hands and feet, hypogonadism, mental retardation

15q11-q13
(maternal)

Angelman

Hypotonia, fair hair, midface hypoplasia, prognathism, seizures, jerky ataxic movements, uncontrollable bouts of laughter, severe mental retardation

17p11.2

Smith-Magenis

Brachycephaly, midface hypoplasia, prognathism, myopia, cleft palate, short stature, behavioral problems, mental retardation

17p13.3

Miller-Dieker

Microcephaly, lissencephaly, pachygyria, narrow forehead, hypoplastic male external genitals, growth retardation, seizures, profound mental retardation

20p12

Alagille

Bile duct paucity with cholestasis; heart defects, particularly pulmonary artery stenosis; ocular abnormalities (posterior embryotoxin); skeletal defects such as butterfly vertebrae; long nose with broad mid-nose

22q11.2

Velocardiofacial-
Digeorge

Hypoplasia or agenesis of the thymus and parathyroid glands, hypoplasia of auricle and external auditory canal, conotruncal cardiac anomalies, cleft palate, short stature, behavioral problems