PALLISTER-KILLIAN SYNDROME

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BOZORGMEHR BITA; KARIMINEJAD ROXANA; TONEKABONI SEYED HASAN; ALMADANI SEYED NAVID; KARIMINEJAD ARIANA

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Journal: GENETICS IN THE 3RD MILLENNIUM Year:2011 | Volume:9 | Issue:3 Page(s): 2521-2523

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Title

PALLISTER-KILLIAN SYNDROME

Author(s)

Keywords

PALLISTER-KILLIAN SYNDROMEQ2

INTELLECTUAL DISABILITYQ2

MUTISMQ2

MOSAICISM FOR TETRASOMY OF CHROMOSOME 12PQ2

Abstract

PALLISTER-KILLIAN SYNDROME is one of the etiologies of severe INTELLECTUAL DISABILITY with a peculiar face, caused by MOSAICISM FOR TETRASOMY OF CHROMOSOME 12P. It is characterized by severe mental retardation, hypotonia, sparse bitemporal hair, sparse eyebrows and eye lashes, a coarse face, hypertelorism, chubby cheeks, cupid bow lips and no speech. In this article, we report a 3-year-old girl with severe mental retardation, no speech and a peculiar face. CGH array documented PALLISTER-KILLIAN SYNDROME.

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APA: Copy

BOZORGMEHR, BITA, KARIMINEJAD, ROXANA, TONEKABONI, SEYED HASAN, ALMADANI, SEYED NAVID, & KARIMINEJAD, ARIANA. (2011). PALLISTER-KILLIAN SYNDROME. GENETICS IN THE 3RD MILLENNIUM, 9(3), 2521-2523. SID. https://sid.ir/paper/117185/en

Vancouver: Copy

BOZORGMEHR BITA, KARIMINEJAD ROXANA, TONEKABONI SEYED HASAN, ALMADANI SEYED NAVID, KARIMINEJAD ARIANA. PALLISTER-KILLIAN SYNDROME. GENETICS IN THE 3RD MILLENNIUM[Internet]. 2011;9(3):2521-2523. Available from: https://sid.ir/paper/117185/en

IEEE: Copy

BITA BOZORGMEHR, ROXANA KARIMINEJAD, SEYED HASAN TONEKABONI, SEYED NAVID ALMADANI, and ARIANA KARIMINEJAD, “PALLISTER-KILLIAN SYNDROME,” GENETICS IN THE 3RD MILLENNIUM, vol. 9, no. 3, pp. 2521–2523, 2011, [Online]. Available: https://sid.ir/paper/117185/en

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