16p SUBTELOMERIC DUPLICATION WITH
VASCULAR ANOMALIES: AN ALBANIAN CASE REPORT
AND LITERATURE REVIEW
Babameto-Laku A1,*, Mokini V1, Kuneshka N2, Sallabanda S3, Ylli Z1
*Corresponding Author: Assistant Professor Anila Babameto-Laku, Service of Medical Genetics, University
Hospital Center “Mother Teresa”, Faculty of Medicine, Tirana, Albania, Rr. e Dibres 370, Tirana,
Albania; Tel.: +(355)-68-20-94-170 (mobile); Fax: +355-4-227-2782; E-mail: laku62@yahoo.com
page: 73
|
|
REFERENCES
1. O’Connor TA, Higgins RR. Trisomy 16p in a
liveborn infant and review of trisomy 16p. Am
J Med Genet. 1992; 42(3): 316-319.
2. Juan JLC, Cigudosa JC, Gomez AO, Almeida
MTA, Miranda LG. De novo trisomy 16p. Am
J Med Genet. 1997; 68(2): 219-221.
3. Movahhedian HR, Kashani DS, Bull D, Jones KL,
Rothman A. Pulmonary hypertension and trisomy
16. Pediatr Cardiol. 1998; 19(2): 187-189.
4. Kokalj-Vokac N, Medica I, Zagorac A, Zagradisnik
B, Erjavec A, Gregoric A: A case insertional
translocation resulting in partial trisomy 16p.
Ann Genet. 2000; 43(3-4): 131-135.
5. Tschernigg M, Petek E, Leonhardtsberger A, Wagner
K, Kroisel PM. Terminal tandem duplication
of 16p: a case with ‘pure’ partial trisomy (16)(pter
p13). Genet Couns. 2002; 13(3): 303-307.
6. Sommer A, Pastore M, Wenger G. Trisomy 16p:
a longitudinal profile and photo essay. Am J Med
Genet. 2006; 140(2): 174-179.
7. Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry
JA, Hedrick JF, Pack SD, Russell K, Zackai
E, Dobyns WB, Ledbetter DH. ‘Molecular rulers’
for calibrating phenotypic effects of telomere imbalance.
J Med Genet. 2002; 39(10): 734-740.
8. Leonard C, Huret JL, Imbert MC, Lebouc Y,
Selva J, Boulley AM. Trisomy 16p in a liveborn
offspring due to maternal translocation t(16;21)
(q11;p11) and review of the literature. Am J Med
Genet. 1992; 43(3): 621-625.
9. De Ravel T, Aerssens P, Vermeesch JR, Fryns JP.
Trisomy of chromosome 16p13.3 e to an unbalanced
insertional translocation into chromosome
22q13. Eur J Med Genet. 2005; 48(3): 355-359. 10. Ruiter EM, Koolen DA, Kleefstra T, Nillesen
WM, Pfundt R, De Leew N, Hamel BCJ, Brunner
HG, Sistermans EA, De Vries BBA. Pure subtelomeric
microduplications as a cause of mental
retardation. Clin Genet. 2007; 72(4): 362-368.
11. Rochat MK, Riegel M, Schinzel AA. Long-term
follow-up of a 26-year-old male with duplication
of 16p: clinical report and review. Am J Med
Genet. 2007; 143(4): 399-408.
12. Leschot NJ, Denef JJ, Geraedts JPM, Becker-
Bloemkolk MJ, Talma A, Bijlsma JB, Vejaal M.
Five familial cases with a trisomy 16p syndrome due
to translocation. Clin Genet. 1979; 16(3): 205-214.
13. Digilio CM, Bernardini L, Capalbo A, Capolino
R, Gagliardi GM, Marino B, Novelli A, Dallapiccola
B. 16p Subtelomeric duplication: a
clinically recognizable syndrome. Eur J Hum
Genet. 2009; 17(9): 1135-1140.
|
|
|
|
 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
|
