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