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Cytogenetics Board Review

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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.  


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