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Cytogenetics GC '12

Cytogenetics Board Review

Del(1)(p36) Significant phenotypic overlap with Prader-Willi
TAR syndrome - Thrombocytopenia-absent radius syndrome Del(1)(q21.1). Bilateral radial aplasia without absence of the thumbs.
dup(3)(q26.3) Phenotypic overlap with Cornelia de Lange syndrome. Low anterior hairline, synophrys, anteverted nares, maxillary prognathism, long philtrum, 'carp' mouth.
del(4)(p16.3) Wolf-Hirschhorn syndrome. Greek Warrior Helmet.
del(5)(p15) Cri-du-chat syndrome
del(5)(q35) Sotos syndrome phenotype. Overgrowth, macrocephaly, MR, hypotonia
del(7)(q11.22q11.23) Williams syndrome - Supravalvular aortic stenosis
del(7)(q11.23q11.23) Microdeletions associated with W@illiams syndrome
del(7)(q36) 7q36 is the location of the sonic hedgehog gene. Holoprosencephaly
dup(8)(p23.1p23.1) Two cytogenetically indistinguishable variants. One a benign variant, second group has developmental delays and/or heart defects.
del(8)(q24.11-24.13) Langer-Giedion syndrome. Contiguous syndrome with disturbances of TRPS1 and EXT1
inv(8)(p23.1q22.1) Pericentric inversion. Individuals of Hispanic descent. 6% chance of having a child with recombinant 8 syndrome
Trisomy 8 mosiac trisomy 8 has been noted.
Del(9)(p24) Partial monosomy 9p is associated with male to female sex reversal.
inv(9)(p11q13) A recurring pericentric inversion that is not associated with an increased risk for liveborn unbalanced recombinant offspring.
Trisomy 9 mosaicism severe phenotype
del(10)(p13-14) A small number of patients with DiGeorge phenotype have been reported with these deletions
dup(11)(p15.5) Duplications in this region are known to be reported with Beckwith-Wiedemann syndrome
del(11)(p13) Interstitial deletions are associated with WAGR syndrome. Wilms tumore, aniridia-genitourinary anomalies and mental retardation syndrome. WT1 and AN2 are involved
del(11)(p11.2) Potocki-Shaffer syndrome
del(11)(q23) Jacobson syndrome. May be caused by an inherited fragile site at 11q23.3 in some patients.
t(11;22)(q23.3;q11.2) One of 2 recurring constitutional reciprocal translocations.
+der(22)t(11;22)(q23.3;11.2) Emanuel syndrome. The offspring of individuals who carry the recurring t(11;22) translocation and results in a double trisomy.
inv(11)(q21q23) A common recurring paracentric inversion
+i(12)(p10) Tetrasomy 12p secondary to an extra isochromosome of 12 short arm is associated with Pallister-Killian syndrome. Tissue limited mosaicism.
del(13)(q14.2) High risk of developing retinoblastoma
del(15)(q11-13)pat Prader-Willi syndrome
del(15)(q11-13)mat Angelman syndrome
dup(15)(q11-13)mat autism
del(16)(p13.3) alpha-thalassemia/MR syndrome
del(16)(p13.3) Rubinstein-Taybi syndrome
del(17)(p13.3) Miller Dieker syndrome - Isolated lissencephaly
del(17)(p11.2) Smith-Magenis syndrome
dup(17)(p11.2) Potocki-Lupski syndrome
del(17)(p11.2) Hereditary Neuropathy with liability to Pressure Palsies
dul(17)(p11.2) Charcot0Marie Tooth disease
18p- Moderate growth deficiency, MR, hypotonia, microcephaly, holoprosencephaly, micrognathia, large ears
18q- MR, short stature, hypotonia, hearing impairment and food deformities
del(20)(p12.3) Alagille syndrome
del(21)(q22.3) Epilepsy Holoprocencephaly Candidate
del(22)(q11.2) DiGeorge syndrome - Catch22 cardiac abnormality, abnormal facies, T-cell deficit due to thymic hypoplasia, cleft palate, hypocalcemia.
dup(22)(q11.2) DiGeorge syndrome
+idic(22)(q11.2) Cat eye syndrome. MR, coloboma of the iris, downslanting palpebral fissures, perauricular tags or pits, anal atresia
del(22)(q13) Phelan-McDermid syndrome.
del(X)(p22.3p22.3) X-linked ichthyosis. STS gene. Males may also confer Kallmann syndrome
dup(X)(p21p21) Sex-reversed XY males
dup(X)(p22p22) Pelizaeus-Merzbacher disease
inv(Y)(p11;q11) pericentric inversions a typically benign variant.
Created by: btkosewski