Smith's Chromosome Syndromes

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  1. Down Syndrome
    hypotonia with open mouth/protruding tongue, ID, characteristic features, brushfield spots, ear anomalies and hearing loss, short neck with excess skin, CHD (40%), abnormal genitalia and gonadal deficiency (some females have reproduced)
  2. Image Upload 1  Trisomy 18/Edwads
    >50%: clenched hands (hypertonicity after neonatal period), rocker-bottom feet, short sternum, low-arch dermal ridge pattern on fingertips, feeble fetal activity, CHD, excess skin, single umbilical artery

    • partial trisomy 18p: mild nonspecific phenotype
    • partial trisomy 18q: clinically indistinguishable from full +18
  3. Image Upload 2  Trisomy 13 (Patau)
    >50%: midline defects (variable holoprosencephaly with clefting, cyclopia), ID, polydactyly, hearing defecgt, sloping forehead, low set ears, simian crease, heart defects, abnormal genitalia, single umbilical artery

    mosaicism: variable degree of severity
  4. Trisomy 8 Mosaicism
    ID, dysmorphic features incl. thick lips, deep-set eyes, prominent cupped ears, camptodactly, limited elbow supination, single palmar crease, major joint contractures, other anomalies
  5. Image Upload 3  Trisomy 9 Mosaicism
    joint contractures, CHD, low-set malformed ears, severe ID, sloping forehead, micrognathia,
  6. triploidy/ triploid mixoploidy
    69% paternally derived due to dispermy

    large placenta with hydatidiform changes, growth deficiency, syndactyly of 3rd and 4th fingers, CHD, brain anomalies

    mixoploidy individuals show asymmetric skeletal growth and some degreee of psychomotor retardation
  7. Image Upload 4 Deletion 3p
    mental and growth retardation, ptosis, postaxial polydactyly, severe ID, microcephaly, dysmorphic features (long philtrum, micrognathia)
  8. Image Upload 5 Duplication 3q
    mental and growth retardation, broad nasal root, hypertrichosis, ID with brain anomalies, craniosynostosis, downturned corners of the mouth, anomalies of other organ systems
  9. Image Upload 6 Deletion 4p (Wolf-Hirschhorn)

    growth deficiency (prenatal onset), hypotonia, severe ID, greek-helmet facies (ocular hypertelorism with broad or beaked nose, microcephaly +/- cranial asymmetry, low-set simple ear with pits, caridac and genital anomalies
  10. Image Upload 7 Deletion 5p (Cri du Chat)
    cat-like cry in infancy, microcephaly and round face, downward slanting palpebral fissures, growth deficiency, ID, simian crease, CHD
  11. Deletion 9p
    ID/DD, craniosynostosis-->trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges
  12. Duplication 9p
    growth deficiency, severe ID, hypertelorism, delayed closure of anterior fontanelk distal phalangeal hypoplasia, skeletal anomalies
  13. Duplication 10q
    growth deficiency (prenatal onset), ID, hypotonia, microcephaly, dysmorphic features, camptodactyly
  14. Aniridia-Wilms Tumor
    11p13 deletion

    ID, ASD/ADHD, growth deficiency, aniridia, congenital cataracts, wilms tumor, obesity,
  15. Deletion 11q
    growth deficiency (prenatal onset), varying ID, dysmorphic features (hypertelorism, carp-shaped mouth), CHD
  16. Deletion 13q
    growth & mental deficiency, brain anomalies, dysmorphic features (high nasal bridge, eye defect, short-webbed neck), thumb hypoplasia
  17. Duplication distal 15q
    ID, dysmorphic features (prominent nose with broad nasal bridge), camptodactly, CHD, skeletal anomalies
  18. Deletion 18p
    mental and growth deficits, ptosis or epicanthal folds, prominent ears, wide-downturned mouth
  19. Deletion 18q
    disproportionate short stature, ID, hypotonia, midfacial hypoplasia with carp-shaped mouth, prominent antihelix, whorl digital pattern
  20. Image Upload 8 Cat Eye
    triplication of 22q11

    coloboma, hypertelorism, anal atresia, CHD, ear pits/tgs, mild ID
  21. XYY Syndrome
  22. Klinefelter
  23. Turner
  25. XXY, XXXXY
  26. 1p36 microdeletion

    ID, lack of expressive language, microcephaly with large late-closing anterior fontanel, deep-set eyes, pointed chin, thickened ear helices, CHD, hypotonia, seizures, brachydactyly, camptodactyly
  27. 1q42 microdeletion
    variable phenotype incl. hypotonia, ID, congenital diaphragmatic hernia, characteristic facies (coarse facies, hypertelorism, broad nasal tip, full tips), short limbs, CNS anomalies, CHD
  28. 1q43q44 (terminal) microdeletion
    growth retardation, ID, characteristic facies (round face, hypertelorism, prominent metopic ridge, thin upper lip, low-set malformed ears), tapered fingers, CNS anomalies
  29. 2q31.1 microdeletion
    critical genes: HOXD cluster, DLX1/2

    range of limb defects, ID, dysmorphic features, growth retardation, CNS anomalies, ocular anomalies, CHD, abnl genitalia
  30. 2q37 terminal microdeletion
    short stature, obesity, ID, sparse hair and arched eyebrows, dysmorphic features, small hands and feet with short 4th and 5th metacarpals

    differential: Albright hereditary osteodystrophy
  31. 3q29 microdeletion
    usually recurrent 1.6 Mb; critical genes: AK2 & DLG1 are homologues of X-linked MR genes PAK3 & DLG3

    ID, microcephaly, mild dysmorphic features, risk for ASD or psychiatric conditions
  32. Image Upload 9  9q34.3 Kleefstra
    EHMT1 haploinsufficiency

    DD/ID, behavioral problems, CVN anomalies, characteristic facies (microcephaly, snophrys, downturned corners of mouth), +/- cardiac and genital anomalies
  33. 15q24 microdeletion
    variable size; impt genes: CYP11A1 (genital anomalies?), SEMA7A, CPLX3, STRA6 (diaphagmatic hernia?)

    ID, variable dysmorphic features, other variable phenotypic features (CHD, hearing loss, occular and genital anomalies, hands and foot anomalies)
  34. 16p11.2p12.2 microdeletion

    ID, expressive language disorder, single palmar crese, syndactyly, heart defects, ASD
  35. 17q21 microdeletion
    recurrent; incl. KANSL1 haploinsufficiency

    ID, speech delay, epilepsy, craniofacial anomalies in >50%, cryptorcidism in males +/- defects of other systems (skeletal, kidney, limbs, heart)
  36. Image Upload 10 
    22q13 deletion/Phelan-McDermid
    SHANK3 haploinsufficiency

    ID, absent or delayed speech, hypotonia, ASD-like behaviors, dolichocephaly, prominet dysplastic ears, pointed chin
  37. Xq distal duplication or disomy
    MECP2 & IRAK1 (interleukin receptor)

    severe ID, absence or delayed speech, hypotonia, CNS anomalies, dysmorphic features, recurrent infections
Card Set
Smith's Chromosome Syndromes
chrom. abnl. identifiable on karyotype and array
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