Therefore, we believe that holoprosencephaly might take part among the classic dysmorphic features of mosaic trisomy 9 syndrome.
📌 3 Maddede Bu Makale
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Amaç & Hipotez:Mosaic trisomy 9 syndrome is a rare chromosomal abnormality and is well defined with dysmorphologic features such as upslanting and short palpebral fissures; deeply set eyes; micrognathia; and cardiovascular, genital, and brain abnormalities.
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Temel Bulgular & Veri:Holoprosencephaly, a developmental brain abnormality, is a rarely seen in patients with mosaic trisomy 9 syndrome.
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Sonuç & Katkı:Therefore, we believe that holoprosencephaly might take part among the classic dysmorphic features of mosaic trisomy 9 syndrome.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Özet
Mosaic trisomy 9 syndrome is a rare chromosomal abnormality and is well defined with dysmorphologic features such as upslanting and short palpebral fissures; deeply set eyes; micrognathia; and cardiovascular, genital, and brain abnormalities. Holoprosencephaly, a developmental brain abnormality, is a rarely seen in patients with mosaic trisomy 9 syndrome. Here we present a case of a patient with mosaic trisomy 9 syndrome with alobar type holoprosencephaly who died in the first hour of the natal period. As per the literature, this is the third case of mosaic trisomy 9 with holoprosencephaly to be reported. Therefore, we believe that holoprosencephaly might take part among the classic dysmorphic features of mosaic trisomy 9 syndrome.
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Bu Makaleye Atıf Yap
MERMER, S., ÖZEK, M., PERÇİN, F. E., KARAOĞUZ, M. Y., BAYRAM, M. (2018). Holoprosencephaly: A Rare Finding in Mosaic Trisomy 9 Syndrome. Erciyes Medical Journal, Cilt: 40 - Sayı: 1, 54–56. https://ajindex.com/articles/223508
Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, et al. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet 2009; 46(6): 389-98. [CrossRef] Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet 1996; 64(3): 465-72. [CrossRef] Olsen CL, Hughes JP, Youngblood LG, Sharpe-Stimac M. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989. Am J Med Genet 1997; 73(2): 217-26. [CrossRef] Gerard-Blanluet M, Danan C, Sinico M, Lelong F, Borghi E, Dassieu G, et al. Mosaic trisomy 9 and lobar holoprosencephaly. Am J Med Genet 2002;111(3): 295-300. [CrossRef] Yang Z. Mosaic Trisomy 9 in a Male Fetus with Severe Facial Abnormality and Genital Hypoplasia. Int J Hum Genet 2013; 13(2): 75-8. [CrossRef] Jones KL, Jones MC, Del Campo M. Trisomy 9 Mosaic Syndrome. Smith’s Recognizable Patterns of Human Malformation. 7th edition. USA: Elsevier Health Sciences; 2013.p.28-9.
Mouden C, Dubourg C, Carré W, Rose S, Quélin C, Akloul L, et al. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing. Clin Genet 2016; 89(6): 659-68. [CrossRef] Roesslerl E, Belloniz E, Gaudenzl K, Iay P, Berta P, Schererz SW, et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 1996; 14(3): 357-60. [CrossRef] Towers M, Wolpert L, Tickle C. Gradients of signalling in the developing limb. Curr Opin Cell Biol 2012; 24(2): 181-7. [CrossRef] Derwińska K, Smyk M, Cooper ML, Bader P, Cheung SW, Stankiewicz P. PTCH1 duplication in a family with microcephaly and mild developmental delay. Eur J Hum Genet 2009; 17(2): 267-71. [CrossRef] Kaminker CP, Daín L, Lamas MA, Sánchez JM, Opitz JM, Reynolds JF. Mosaic trisomy 9 syndrome with unusual phenotype. Am J Med Genet 1985; 22(2): 237-41. [CrossRef] Bruns DA, Campbell E. Twenty‐five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status. Am J Med Genet A 2015; 167A(5): 997-1007. [CrossRef]