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Cytogenetics GC '12
Cytogenetics Board Review
| Question | Answer |
|---|---|
| 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
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