Constitutional Conditions Due to Structural Chromosome Abnormalities

Card Set Information

Author:
elzotter
ID:
77280
Filename:
Constitutional Conditions Due to Structural Chromosome Abnormalities
Updated:
2011-04-04 13:45:44
Tags:
cytogenetics molecular
Folders:

Description:
cytogenetics
Show Answers:

Home > Flashcards > Print Preview

The flashcards below were created by user elzotter on FreezingBlue Flashcards. What would you like to do?


  1. Beckwith-
    Wiedemann
    • Gigantism, macroglossia, omphalocele,
    • hemihypertrophy, neonatal
    • hyperglycemia Wilms’ & other tumors


    • Paternal UPD 11p15
    • (some cases) (includes
    • IGF2)
  2. Cri-du-Chat
    • Meowing cry, low birth wt, failure to thrive,
    • microcephaly, characteristic facies


    Deletion 5p
  3. DiGeorge/
    Velocardiofacial
    • Congenital heart defects (esp.
    • conotruncal), palatal abnormalities,
    • immunodeficiency, hypocalcemia


    Deletion 22q11
  4. Miller-Dieker
    • Microcephaly, lissencephaly, seizures,
    • MR


    • Deletion 17p13
    • (includes LIS)
  5. Pallister-Killian
    • Diaphragmatic hernia, hypotonia, short
    • limbs, imperforate anus, talipes,
    • characteristic facies


    • Extra isochromosome
    • 12p) (all cases mosaic)
  6. Retinoblastoma
    (with birth defects)
    • Retinoblastoma uni- or bilateral),
    • osteosarcoma, craniofacial abnormalities


    • Deletion 13q14
    • (includes RB)
  7. Russell-Silver
    • Pre- & postnatal growth retardation,
    • skeletal asymmetry, triangular-shaped
    • face


    • Maternal UPD chr 7
    • (some cases)
  8. Smith-Magenis
    • Failure to thrive,dysmorphic features,
    • hoarse voice, hearing loss, selfdestructive
    • behavior, sleep
    • abnormalities


    Deletion 17p11
  9. WAGR
    • Wilms’ tumor, Aniridia, Genitourinary
    • malformations, mental Retardation


    • Deletion 11p13
    • (includes PAX6 & WT1)
  10. Williams
    • Supravalvular aortic stenosis (SVAS),
    • small stature, hypercalcemia, outgoing personality

    Deletion 7q11 (includes ELN, elastin)
  11. Wolf-Hirchhorn
    • Pre- and postnatal growth retardation,
    • severe hypotonia, microcephaly, cleft
    • lip/palate, characteristic facies w/
    • prominent forehead

    Deletion 4p

What would you like to do?

Home > Flashcards > Print Preview