PHENOTYPIC VARIABILITY
OF 17Q12 MICRODELETION SYNDROME –
THREE CASES AND REVIEW OF LITERATURE
Țuțulan-Cuniță A, Pavel AG, Dimos L, Nedelea M,
Ursuleanu A, Neacșu AT, Budișteanu M, Stambouli D
*Corresponding Author: Andreea Țuțulan-Cuniță, Cytogenomic Medical Laboratory, 35 Calea Floreasca,
Bucharest, 14453, Romania, Tel: 0040212331354, Fax: 0040212331357, E-mail: cunita@cytogenomic.ro
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RESULTS
The fetus of patient A carried a microdeletion with a
minimal size of 1.35 Mb at 17q12, 34,817,422-36,168,104
(hg19), encompassing 18 genes: PIGW, ACACA, HNF1B,ZNHIT3, GGNBP2, DHRS11, LHX1, AATF, TADA2A,
DUSP14, DDX52, MYO19, MRM1, MIR2909, SNORA90,
C17ORF78, SYNRG, MIR378. The fetus of patient B exhibited
a 1.31 Mb loss at 17q12, 34,851,537-36,168,104
(hg19), encompassing the same 18 genes. A conventional
karyotype was also performed in both cases, showing normal
chromosomal complements.
Patient C presented a 1.80 Mb deletion at 17q12
at 34,475,679-36,283,807 (hg19) including CCL3L3,
CCL3L1, CCL4L2, TBC1D3C, TBC1D3G, TBC1D3H,
PIGW, ACACA, HNF1B, ZNHIT3, GGNBP2, DHRS11,
LHX1, AATF, TADA2A, DUSP14, DDX52, MYO19, MRM1,
MIR2909. SNORA90, C17ORF78, SYNRG, MIR378.
In neither case was parental DNA available for further
investigation.
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