Syndromes & cytogenetics

Its an very important table from Harrison 18th.Try to remember name,chromosome number and some symptoms.

Syndrome|Cytogenetic Location |Principal Features|Imprinting Effects

Langer-Giedion syndrome
8q24.1 (del)
Sparse hair, bulbous nose, variable mental retardation
No

WAGR complex
11p13 (del)
Wilms' tumor, aniridia, genitourinary disorders, mental retardation
No

Beckwith-Wiedeman n syndrome
11p15 (dup)
Macrosomia, macroglossia, omphalocele
Yes, occasionally associated with "paternal uniparental disomy"

Retinoblastoma
13q14.11 (del)
Retinoblastoma due to homozygous loss of functional RB allele
No obvious effect, although abnormal RB allele more likely to be paternal

Prader-Willi syndrome
15q11-13 (del)
Obesity, hypogonadism, mental retardation,increased ghrelin
Yes, prototypic imprinting disorder

Angelman syndrome
15q11-13 (del)
Ataxic gait,inappropiate laughing,seizure,retardation [SARI]
With Prader-Willi syndrome, prototypic imprinting disorder

-Thalassemia and mental retardation
16p13.3 (del)
-Thalassemia and mental retardation, due to deletion of distal 16p, including globin locus
No

Smith-Magenis syndrome
17p11.2 (del)
Brachycephaly, midface hypoplasia, mental retardation
No

Miller-Dieker syndrome
17p13 (del)
Dysmorphic facies, lissencephaly(absent gyri and sulci)
No

Charcot-Marie-Tooth syndrome type 1A
17p11.2 (dup)
Progressive neuropathy due to microduplication
No

DiGeorge/velocardiofacial syndrome
22q11 (del)
Abnormalities of third and fourth branchial arches
No