-
Beckwith-
Wiedemann
- Gigantism, macroglossia, omphalocele,
- hemihypertrophy, neonatal
- hyperglycemia Wilms’ & other tumors
- Paternal UPD 11p15
- (some cases) (includes
- IGF2)
-
Cri-du-Chat
- Meowing cry, low birth wt, failure to thrive,
- microcephaly, characteristic facies
Deletion 5p
-
DiGeorge/
Velocardiofacial
- Congenital heart defects (esp.
- conotruncal), palatal abnormalities,
- immunodeficiency, hypocalcemia
Deletion 22q11
-
Miller-Dieker
- Microcephaly, lissencephaly, seizures,
- MR
- Deletion 17p13
- (includes LIS)
-
Pallister-Killian
- Diaphragmatic hernia, hypotonia, short
- limbs, imperforate anus, talipes,
- characteristic facies
- Extra isochromosome
- 12p) (all cases mosaic)
-
Retinoblastoma
(with birth defects)
- Retinoblastoma uni- or bilateral),
- osteosarcoma, craniofacial abnormalities
- Deletion 13q14
- (includes RB)
-
Russell-Silver
- Pre- & postnatal growth retardation,
- skeletal asymmetry, triangular-shaped
- face
- Maternal UPD chr 7
- (some cases)
-
Smith-Magenis
- Failure to thrive,dysmorphic features,
- hoarse voice, hearing loss, selfdestructive
- behavior, sleep
- abnormalities
Deletion 17p11
-
WAGR
- Wilms’ tumor, Aniridia, Genitourinary
- malformations, mental Retardation
- Deletion 11p13
- (includes PAX6 & WT1)
-
Williams
- Supravalvular aortic stenosis (SVAS),
- small stature, hypercalcemia, outgoing personality
Deletion 7q11 (includes ELN, elastin)
-
Wolf-Hirchhorn
- Pre- and postnatal growth retardation,
- severe hypotonia, microcephaly, cleft
- lip/palate, characteristic facies w/
- prominent forehead
Deletion 4p
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