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Flashcards in Deletions Deck (44)
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1

46, XY, del(5)(p15.2)

Cri-du-chat syndrome

2

Cri-du-chat syndrome

46, XY, del(5)(p15.2)

3

46, XX, del(17p11.2)

Hereditary neuropathy with liability to pressure palsies

4

Hereditary neuropathy with liability to pressure palsies

46, XX, del(17p11.2) - deletion of the gene encoding peripheral myelin protein-22 (contiguous gene syndromes/"genetic" disorders)

5

foot drop, loss of sensation in legs for days to months

Hereditary neuropathy with liability to pressure palsies

6

Hereditary neuropathy with liability to pressure palsies - Symptoms

foot drop, loss of sensation in legs for days to months

7

Velocardiofacial syndrome - Symptoms

Cleft palate, septal defects

8

del 22q11

Velocardiofacial syndrome

9

Velocardiofacial syndrome

del 22q11

10

Cleft palate, septal defects

Velocardiofacial syndrome - Symptoms

11

DiGeorge Syndrome

del 22q11.2

12

del 22q11.2

DiGeorge Syndrome

13

absent or hypoplastic thymus and parathyroids, congenital heart disease, neural crest, cranchial pouches, great vessels, outflow tract defects in heart

DiGeorge Syndrome

14

DiGeorge Syndrome - Symptoms

absent or hypoplastic thymus and parathyroids, congenital heart disease, neural crest, cranchial pouches, great vessels, outflow tract defects in heart

15

Wolf-Hirschhorn syndrome

del(4p16.3)

16

del(4p16.3)

Wolf-Hirschhorn syndrome

17

Wolf-Hirschhorn syndrome - symptoms

facial clefting, prominent ears, microcephaly, intellectual disabilities

18

facial clefting, prominent ears, microcephaly, intellectual disabilities

Wolf-Hirschhorn syndrome - symptoms

19

Cri-du-chat syndrome - symptoms

microcephaly, characteristic cry, seizures, intellectual disabilities

20

microcephaly, characteristic cry, seizures, intellectual disabilities

Cri-du-chat syndrome - symptoms

21

Williams syndrome

del(7q11.2)

22

del(7q11.2)

Williams syndrome

23

Williams syndrome - symptoms

congenital heart disease, short stature

24

congenital heart disease, short stature

Williams syndrome - symptoms

25

Langer-Giedion syndrome

del(8q24.1)

26

del(8q24.1)

Langer-Giedion syndrome

27

Langer-Giedion syndrome - symptoms

Tricho-rhino-pharangeal syndrome, multiple exostoses

28

Tricho-rhino-pharangeal syndrome, multiple exostoses

Langer-Giedion syndrome - symptoms

29

WAGR syndrome

del(11p13)

30

del(11p13)

WAGR syndrome