Distal trisomy 10q/partial monosomy 14q: An unusual clinical picture

Genetic Counseling

Volumn 16, Issue 1, 2005, Pages 59-63

  Bregant, Lev ^a   Gersak K ^a   Veble, A ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

Chromosome 10; Chromosome 14; Distal trisomy; Partial monosomy

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 10Q; CHROMOSOME 14Q; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; GENE DELETION; HUMAN; LUNG HYPOPLASIA; MALE; MONOSOMY; NEWBORN; PARTIAL TRISOMY 10; PHENOTYPE;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 14; CYTOGENETICS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; MONOSOMY; PHENOTYPE; TRISOMY; TWINS;

EID: 16444377895     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. BRISCIOLI V., FLORIDIA G., ROSSI E., SELICORNI A., LALATTA F., ZUFFARDI O.: Trisomy 10qter confirmed by in situ hybridization. J. Med. Genet., 1993, 30, 601-603.
2. CANKI N., KONJAJEV Z., DEBEVEC M., RAINER S., RETHORE M.O.: Trisomy 10q24 leads to 10qter due to a familial translocation t(10;14)(q24;q32). Ann. Génét., 1980, 23, 176-178.
3. DAVIES J., JAFFÉ A., BUSH A.: Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities. J. Med. Genet., 1998, 35, 72-74.
4. DE GROUCHY J., CANET J.: Translocation 6-12, 13-15 et trisomie partielle 6-12 (probablement 10). Ann. Génét., 1965, 8, 16-20.
5. HOWARD P.J., CLARK D., DEARLOVE J.: Retinal/macular pigmentation in conjunction with ring 14 chromosome. Hum. Genet., 1988, 80, 40-142.
6. HREIDARSSON S.J., STAMBERG J.: Distal monosomy 14 not associated with ring formation. J. Med. Genet., 1983, 20, 147-149.
7. KLEP-DE PATER J.M., BIJLSMA J.B., DE FRANCE H.F., LESCHOT N.J., DUIJNDAM VAN DEN BERGE M., VAN HEMEL J.O.: Partial trisomy 10q: a recognizable syndrome. Hum. Genet., 1979, 46, 29-40.
8. MERTENS D.J., DE DIE-SMULDERS C.E., KAMPSCHÖER P.H., OFFERMANS J.P., ENGELEN J.J., HAMERS A.J., LAMMENS M., SCHRANDER-STUMPEL C.T.: 14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies. Genet. Couns., 2000, 11, 341-346.
9. MITELMAN F.: ISCN 1995. An International System for Human Cytogenetic Nomenclature. Basel, S. Karger, 1995.
10. MITSUFUJI N., TOKUDA S., NAKANOIN H., YOSHIOKA H., SAWADA T.: Partial 10q trisomy with partial 12q monosomy. Arch. Dis. Child., 1997, 77, 528-529.
11. SPRUIJT L., VAN DER BLIJ-PHILIPSEN M., ENGELEN J. J., SCHRANDER-STUMPEL C.T.: An adult patient with a distal interstitial 14q deletion: clinical report and literature review. Genet. Couns., 2000, 11, 335-340.
12. TAYSI K., YANG V., MONAGHAN N., BERAHA N.: Partial trisomy 10q in three unrelated patients. Ann. Genet., 1983, 26, 79-85.
13. TELFORD N., THOMSON D.A.G., GRIFFITHS M.J., ILETT S., WATT J.L.: Terminal deletion (14)(q32.3): a new case. J. Med. Genet., 1990, 27, 261-263.
14. TÜYSÜZ B., HACIHANEFIOǦLU S., SILAHTAROǦLU A., YILMAZ Š., DEVIREN A., CENANI A.: TWo cases of partial trisomy 10q syndrome due to a familial 10;20 translocation. Genet. Couns., 2000, 11, 355-361.
15. UEHARA S., AKAI Y., TAKEYAMA Y., OKAMURA K., TAKABAYASHI T., YAJIMA A., NATSUI M., NAKAI H.: A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p. Clin. Genet., 1993, 43, 28-33.
16. WANG H.S., ALLANSON J.E.: A further case of terminal deletion (14)(q32.2) in a child with mild dysmorphic features. Ann. Génét., 1992, 35, 171-173.
17. YEN F., PODRUCH P.E., WEISSKOPF B.: A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation. J. Med. Genet., 1989, 26, 130-133.
18. YUNIS J.J., SANCHEZ O.: A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10. J. Pediatr., 1974, 84, 567-570.