Cytogenetics Board Review
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each of the black spaces below before clicking
on it to display the answer.
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| show | Significant phenotypic overlap with Prader-Willi
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| TAR syndrome - Thrombocytopenia-absent radius syndrome | show 🗑
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| show | Phenotypic overlap with Cornelia de Lange syndrome. Low anterior hairline, synophrys, anteverted nares, maxillary prognathism, long philtrum, 'carp' mouth.
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| show | Wolf-Hirschhorn syndrome. Greek Warrior Helmet.
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| del(5)(p15) | show 🗑
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| show | Sotos syndrome phenotype. Overgrowth, macrocephaly, MR, hypotonia
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| show | Williams syndrome - Supravalvular aortic stenosis
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| del(7)(q11.23q11.23) | show 🗑
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| del(7)(q36) | show 🗑
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| dup(8)(p23.1p23.1) | show 🗑
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| del(8)(q24.11-24.13) | show 🗑
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| show | Pericentric inversion. Individuals of Hispanic descent. 6% chance of having a child with recombinant 8 syndrome
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| Trisomy 8 | show 🗑
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| show | Partial monosomy 9p is associated with male to female sex reversal.
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| inv(9)(p11q13) | show 🗑
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| show | severe phenotype
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| show | A small number of patients with DiGeorge phenotype have been reported with these deletions
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| show | Duplications in this region are known to be reported with Beckwith-Wiedemann syndrome
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| del(11)(p13) | show 🗑
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| del(11)(p11.2) | show 🗑
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| show | Jacobson syndrome. May be caused by an inherited fragile site at 11q23.3 in some patients.
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| t(11;22)(q23.3;q11.2) | show 🗑
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| show | Emanuel syndrome. The offspring of individuals who carry the recurring t(11;22) translocation and results in a double trisomy.
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| inv(11)(q21q23) | show 🗑
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| show | Tetrasomy 12p secondary to an extra isochromosome of 12 short arm is associated with Pallister-Killian syndrome. Tissue limited mosaicism.
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| show | High risk of developing retinoblastoma
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| del(15)(q11-13)pat | show 🗑
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| del(15)(q11-13)mat | show 🗑
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| dup(15)(q11-13)mat | show 🗑
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| del(16)(p13.3) | show 🗑
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| show | Rubinstein-Taybi syndrome
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| del(17)(p13.3) | show 🗑
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| show | Smith-Magenis syndrome
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| show | Potocki-Lupski syndrome
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| show | Hereditary Neuropathy with liability to Pressure Palsies
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| dul(17)(p11.2) | show 🗑
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| show | Moderate growth deficiency, MR, hypotonia, microcephaly, holoprosencephaly, micrognathia, large ears
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| show | MR, short stature, hypotonia, hearing impairment and food deformities
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| show | Alagille syndrome
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| show | Epilepsy Holoprocencephaly Candidate
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| show | DiGeorge syndrome - Catch22 cardiac abnormality, abnormal facies, T-cell deficit due to thymic hypoplasia, cleft palate, hypocalcemia.
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| dup(22)(q11.2) | show 🗑
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| +idic(22)(q11.2) | show 🗑
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| del(22)(q13) | show 🗑
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| del(X)(p22.3p22.3) | show 🗑
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| show | Sex-reversed XY males
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| dup(X)(p22p22) | show 🗑
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| show | pericentric inversions a typically benign variant.
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