Help
Options
Question
Del(1)(p36)
click to flip
Didn't know it?
click below
click below
Knew it?
click below
click below
Don't know
Question
TAR syndrome - Thrombocytopenia-absent radius syndrome
Remaining cards (47)
Know
retry
shuffle
restart
0:00
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
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
Popular Genetics sets