CYTOGEN FORMATIVE EXAM PDF

Name: CASEDA, HANNAH L. Date: 08/14/24 Section: BSMT-B2 Deletions Syndrome Affected Region/s Unique Clinical Feature/s 15q13.3 Microdeletion 15q13.3 schizophrenia...

Name: CASEDA, HANNAH L. Date: 08/14/24 Section: BSMT-B2 Deletions Syndrome Affected Region/s Unique Clinical Feature/s 15q13.3 Microdeletion 15q13.3 schizophrenia autism 17q21.3 Microdeletion 17q21.3 deletion abnormal hair color or complementary to the texture 17q21.2 blepharophimosis microduplication epicanthal folds syndrome Alagille 20p12.2 cholestasis posterior embryotoxon peripheral pulmonic stenosis Angelman Maternal 15q11.2–15q13.1 frequent laughter deletion complementary ataxia to jerky arm movements the 15q11.2–15q13.1 microduplication syndrome Cri du chat 5p cat-like cry in infancy DiGeorge 22q11.2 deletion velopharyngeal complementary to incompetence proximal 22q11.2 microduplication syndrome Hereditary neuropathy 17p11.2 deletion asymmetric recurrent with liability to pressure complementary to palsies palsies (HNPP) the CMT1A syndrome duplication Ichthyosis (X-linked) Xp22.3 corneal opacities Jacobsen 11q24.1–11qter strabismus Kallmann Xp22.3 eunuchoid habitus bimanual synkinesis  Deletions Syndrome Affected Region/s Unique Clinical Feature/s Langer-Giedion 8q24.11–8q24.13 bulbous nose Miller-Dieker 17p13.3 lissencephaly bitemporal depression Monosomy 1p36 1p36 early puberty deafness seizures and/or abnormal EEGs enlarged anterior fontanel Phelan-Mcdermid 22q13.3 dolichocephaly Potocki-Shaffer 11p11.2 biparietal foramina micropenis Prader-Willi Paternal 15q11.2–15q13.1 obesity associated with hyperphagia skin picking Rubinstein-Taybi 16p13.3 beaked nose Smith-Magenis 17p11.2 hyperactivity sleep disturbance fingertip pads Sotos 5q35 overgrowth Williams 7q11.23 supravalvular aortic stenosis stellate pattern Wolf-Hirschhorn 4p hypospadias  Duplications Syndrome Affected Region/s Unique Clinical Feature/s 7q11.23 Microduplication 7q11.23 duplication diaphragmatic hernia complementary to the 17q21.2 microdeletion syndrome 17p13.3 Duplication 17p13.3 subtle hand and foot malformations 17q21.3 Duplication 17q21.3 b Duplication variable dysmorphic complementary to the features 17q21.3 microdeletion syndrome Beckwith-Wiedemann 11p15.5 b (Paternal) macroglossia organomegaly omphalocele Cat Eye Tetrasomy 22q11.2 (occasionally coloboma of the iris trisomy) usually anal atresia secondary to an extra pseudodicentric or ring chromosome Charcot-Marie-Tooth 1A 17p11.2 duplication abnormal nerve (CMT1A) complementary to the conduction velocities HNPP muscle atrophy syndrome deletion sensory loss Duplication 3q 3q26.3 a Cornelia de Lange-like phenotype Pallister-Killian Mosaic tetrasomy 12p streaks of hyper- and usually secondary to an hypopigmentation extra metacentric coarsening of face with isochromosome age Potocki-Lupski 17p11.2 duplication failure to thrive complementary to the triangular face Smith-Magenis syndrome deletion  Duplications Syndrome Affected Region/s Unique Clinical Feature/s Proximal 15q11.2 15q11.2 15q13.1a decreased motor Microduplication Complementary to coordination Prader-Willi/ reduced deep tendon Angelman syndrome reflexes deletion region joint laxity Proximal 22q11.2 22q11.2 duplication absent thymus Microduplication complementary to the T-cell de DiGeorge syndrome ficiency deletion Pseudodicentric 15 Tetrasomy 15pter–15q13 low-set ears (“inverted duplicated 15”) due to the presence of an behavioral extra pseudodicentric disturbance chromosome  Translocations Syndrome Affected Region/s Description/s (4;8) Translocation 4p16 and 8p23 at least 18 unrelated breakpoints families have been reported with this syndrome these patients are clinically indistinguishable from Wolf-Hirschhorn patients (8;22) Translocation 8q24.1 and 22q11.21 At least 12 families with breakpoints a recurring (8;22) translocation a normal birth weight normal subsequent growth prominent ears with preauricular pits (11;22) Translocation with breakpoints within first recognized bands recurring constitutional 11q23.3 and 22q11.2 reciprocal translocation in man in 2004, named Emanuel syndrome, to honor the work of Dr. Beverly Emanuel Jumping dynamic/changing; rarely observed in constitutional karyotypes most often used to describe a type of mosaicism: specific donor chromosome segment is translocated → 2 or more different recipient sites over multiple mitotic cell divisions Robertsonian long arms of any 2 ACROcentric chromosomes join = Translocation 1 METAcentric or SUBMETAcentric chromosome approx. 95% are formed between 2 nonhomologous chromosomes de novo whole arm exchanges involving homologous/like chromosome pairs are very rare