Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip-palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)

European Journal of Medical Genetics

Volumn 50, Issue 6, 2007, Pages 455-464

  Callier, P ^a   Faivre, L ^a   Marle, N ^a   Thauvin Robinet, C ^a   Mosca, A L ^a   Masurel Paulet, A ^a   Borgnon, J ^b   Falcon Eicher, S ^b   Danino, A ^a   Malka, G ^a   Le Merrer, M ^c   Huet, F ^b   Mugneret, F ^a  

^a HÔPITAL DU BOCAGE   (France)

^b Medical University of Dijon   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Extremely short stature; Growth hormone deficiency; Interstitial microdeletion; Molecular cytogenetics; Unbalanced t(1; 12) translocation

Indexed keywords

CALCIUM; GROWTH HORMONE; HYPOPHYSIS HORMONE; THYROID HORMONE; VITAMIN D;

ADULT; AORTA; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME 1Q; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CLEFT LIP PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINITY; DISEASE ASSOCIATION; DISEASE SEVERITY; ENTERIC FEEDING; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HUMAN; KARYOTYPE; MALE; MENTAL DEFICIENCY; OSTEOPOROSIS; PUBERTY; SHORT STATURE;

ADULT; BONE DISEASES, DEVELOPMENTAL; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 12; CLEFT LIP; CLEFT PALATE; GROWTH DISORDERS; GROWTH HORMONE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MENTAL RETARDATION; TRANSLOCATION, GENETIC;

EID: 36349007186     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.06.004     Document Type: Article

References (31)

1. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am. J. Hum. Genet. 49 (1991) 995-1013
2. Wirth J., Nothwang H.G., van der Maarel S., Menzel C., Borck G., Lopez-Pajares I., Brondum-Nielsen K., Tommerup N., Bugge M., Ropers H.H., and Haaf T. Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. J. Med. Genet. 36 (1999) 271-278
3. Bugge M., Bruun-Petersen G., Brondum-Nielsen K., Friedrich U., Hansen J., Jensen G., Jensen P.K., Kristoffersson U., Lundsteen C., Niebuhr E., Rasmussen K.R., Rasmussen K., and Tommerup N. Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. J. Med. Genet. 37 (2000) 858-865
4. Ohlsson C., Bengtsson B.A., Isaksson O.G., Andreassen T.T., and Slootweg M.C. Growth hormone and bone. Endocr. Rev. 19 (1998) 55-79
5. Seeman E. From density to structure: growing up and growing old on the surfaces of bone. J. Bone Miner. Res. 12 (1997) 509-521
6. Job J.C., Lejeune C., Canlorbe P., and Rossier A. Dwarfism caused by sporadic and idiopathic pituitary insufficiency. Study of a series of 31 cases. Arch. Fr. Pediatr. 29 (1972) 117-133
7. Bouillon R., Koledova E., Bezlepkina O., Nijs J., Shavrikhova E., Nagaeva E., Chikulaeva O., Peterkova V., Dedov I., Bakulin A., Oganov V., and Attanasio A.F. Bone status and fracture prevalence in Russian adults with childhood-onset growth hormone deficiency. J. Clin. Endocrinol. Metab. 89 (2004) 4993-4998
8. Maheshwari H.G., Bouillon R., Nijs J., Oganov V.S., Bakulin A.V., and Baumann G. The impact of congenital, severe, untreated growth hormone (GH) deficiency on bone size and density in young adults: insights from genetic GH-releasing hormone receptor deficiency. J. Clin. Endocrinol. Metab. 88 (2003) 2614-2618
9. Rahim A., Holmes S.J., Adams J.E., and Shalet S.M. Long-term change in the bone mineral density of adults with adult onset growth hormone (GH) deficiency in response to short or long-term GH replacement therapy. Clin. Endocrinol. (Oxf.) 48 (1998) 463-469
10. Besson A., Salemi S., Gallati S., Jenal A., Horn R., Mullis P.S., and Mullis P.E. Reduced longevity in untreated patients with isolated growth hormone deficiency. J. Clin. Endocrinol. Metab. 88 (2003) 3664-3667
11. Franco B., Lai L.W., Patterson D., Ledbetter D.H., Trask B.J., van den Engh G., Iannaccone S., Frances S., Patel P.I., and Lupski J.R. Molecular characterization of a patient with del(1)(q23-q25). Hum. Genet. 87 (1991) 269-277
12. Pallotta R., Dalpra L., Miozzo M., Ehresmann T., and Fusilli P. A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency. Am. J. Med. Genet. 104 (2001) 282-286
13. Chaabouni M., Martinovic J., Sanlaville D., Attie-Bittach T., Caillat S., Turleau C., Vekemans M., and Morichon N. Prenatal diagnosis and molecular characterization of an interstitial 1q24.2-q25.2 deletion. Eur. J. Med. Genet. 49 (2006) 487-493
14. Leichtman L.G., Strum D., and Brothman A.R. Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21→q25). Am. J. Med. Genet. 45 (1993) 677-678
15. Hoglund P., Jalkanen R., Marttinen E., and Alitalo T. Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations. Am. J. Med. Genet. A 123 (2003) 290-295
16. Koivisto M., Akerblom H.K., Remes M., and de La Chapelle A. Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46, XY, del(1)(q25q32). Acta. Paediatr. Scand. 65 (1976) 513-518
17. Maggio M.C., Iachininoto R., Arena V., and Liotta A. Interstitial deletion of the long arm of chromosome 1 (1q25-32). Clinical and endocrine features with a long term follow-up. Minerva Pediatr. 55 (2003) 55-59 59-61
18. Machinis K., Pantel J., Netchine I., Leger J., Camand O.J., Sobrier M.L., Dastot-Le Moal F., Duquesnoy P., Abitbol M., Czernichow P., and Amselem S. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am. J. Hum. Genet. 69 (2001) 961-968
19. Sathya P., Tomkins D.J., Freeman V., Paes B., and Nowaczyk M.J. De novo deletion 12q: report of a patient with 12q24.31q24.33 deletion. Am. J. Med. Genet. 84 (1999) 116-119
20. Plotner P.L., Smith J.L., and Northrup H. Deletion 12q: a second patient with 12q24.31q24.32 deletion. Am. J. Med. Genet. A 118 (2003) 350-352
21. Ness G.O., Lybaek H., and Houge G. Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. Am. J. Med. Genet. 113 (2002) 125-136
22. Hayashi S., Kurosawa K., Imoto I., Mizutani S., and Inazawa J. Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization. Am. J. Med. Genet. A 139 (2005) 32-36
23. Gribble S.M., Prigmore E., Burford D.C., Porter K.M., Ng B.L., Douglas E.J., Fiegler H., Carr P., Kalaitzopoulos D., Clegg S., Sandstrom R., Temple I.K., Youings S.A., Thomas N.S., Dennis N.R., Jacobs P.A., Crolla J.A., and Carter N.P. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J. Med. Genet. 42 (2005) 8-16
24. Ciccone R., Giorda R., Gregato G., Guerrini R., Giglio S., Carrozzo R., Bonaglia M.C., Priolo E., Lagana C., Tenconi R., Rocchi M., Pramparo T., Zuffardi O., and Rossi E. Reciprocal translocations: a trap for cytogenetists?. Hum. Genet. 117 (2005) 571-582
25. Kumar A., Becker L.A., Depinet T.W., Haren J.M., Kurtz C.L., Robin N.H., Cassidy S.B., Wolff D.J., and Schwartz S. Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements. Hum. Genet. 103 (1998) 173-178
26. Kirchhoff M., Rose H., Maahr J., Gerdes T., Bugge M., Tommerup N., Tumer Z., Lespinasse J., Jensen P.K., Wirth J., and Lundsteen C. High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes. Eur. J. Hum. Genet. 8 (2000) 661-668
27. Kirchhoff M., Rose H., and Lundsteen C. High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38 (2001) 740-744
28. Borg I., Squire M., Menzel C., Stout K., Morgan D., Willatt L., O'Brien P.C., Ferguson-Smith M.A., Ropers H.H., Tommerup N., Kalscheuer V.M., and Sargan D.R. A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. J. Med. Genet. 39 (2002) 391-399
29. Astbury C., Christ L.A., Aughton D.J., Cassidy S.B., Kumar A., Eichler E.E., and Schwartz S. Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genet. Med. 6 (2004) 81-89
30. Shanske A.L., Edelmann L., Kardon N.B., Gosset P., and Levy B. Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation. Am. J. Med. Genet. A 131 (2004) 29-35
31. Harvard C., Malenfant P., Koochek M., Creighton S., Mickelson E.C., Holden J.J., Lewis M.E., and Rajcan-Separovic E. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH. Clin. Genet. 67 (2005) 341-351