Monosomy 1p36: Report of a cohort of 13 Asian Indian patients

被引：0
作者：
Gupta, Neerja [1 ]
Kaur, Ravneet [1 ]
Phadke, Shubha [2 ]
Sharma, Pankaj [1 ]
Nampoothiri, Sheela [3 ]
Saxena, Deepti [2 ]
Kabra, Madhulika [1 ]
机构：
[1] All India Inst Med Sci, Dept Pediat, Div Genet, New Delhi, India
[2] Sanjay Gandhi Post Grad Inst Med Sci, Dept Med Genet, Lucknow, Uttar Pradesh, India
[3] Amrita Inst Med Sci & Res Ctr, Dept Pediat Genet, Cochin, Kerala, India
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2022年 / 188卷 / 04期
关键词：
1p36; deletion; 1p36 deletion syndrome; monosomy; DELETION SYNDROME; PHENOTYPE; OBESITY; WEIGHT;
D O I：
10.1002/ajmg.a.62630
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Monosomy 1p36 is one of the common microdeletion syndromes with a recognizable facial phenotype. Failure to thrive, developmental delay, congenital heart disease, and other abnormalities are common in these patients. This is the first study on Asian Indian patients with monosomy 1p36, documenting the phenotypic characteristics of 13 patients, indicating phenotypic similarities in a diverse population and broadening the clinical spectrum.
引用
收藏
页码：1317 / 1322
页数：6
相关论文
共 20 条
  • [1] Further delineation of deletion 1p36 syndrome in 60 patients: A recognizable phenotype and common cause of developmental delay and mental retardation
    Battaglia, Agatino
    Hoyme, H. Eugene
    Dallapiccola, Bruno
    Zackai, Elaine
    Hudgins, Louanne
    McDonald-McGinn, Donna
    Bahi-Buisson, Nadia
    Romano, Corrado
    Williams, Charles A.
    Braley, Lisa L.
    Zuberi, Sameer M.
    Carey, John C.
    [J]. PEDIATRICS, 2008, 121 (02) : 404 - 410
  • [2] Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy
    Carter, Lauren B.
    Battaglia, Agatino
    Cherry, Athena
    Manning, Melanie A.
    Ruzhnikov, Maura R. Z.
    Bird, Lynne M.
    Dowsett, Leah
    Graham, John M., Jr.
    Alkuraya, Fowzan S.
    Hashem, Mais
    Dinulos, Mary Beth
    Vallee, Stephanie
    Adam, Margaret P.
    Glass, Ian
    Beck, Anita E.
    Stevens, Cathy A.
    Zackai, Elaine
    McDougall, Carey
    Keena, Beth
    Peron, Angela
    Vignoli, Aglaia
    Seaver, Laurie H.
    Slavin, Thomas P.
    Hudgins, Louanne
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (08) : 1543 - 1546
  • [3] Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems
    D'Angelo, Carla S.
    Da Paz, Jose A.
    Kim, Chong A.
    Bertola, Debora R.
    Castro, Claudia I. E.
    Varela, Monica C.
    Koiffmann, Celia P.
    [J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2006, 49 (06) : 451 - 460
  • [4] Extending the Phenotype of Monosomy 1p36 Syndrome and Mapping of a Critical Region for Obesity and Hyperphagia
    D'Angelo, Carla S.
    Kohl, Ilana
    Varela, Monica Castro
    de Castro, Claudia I. E.
    Kim, Chong A.
    Bertola, Debora R.
    Lourenco, Charles M.
    Koiffmann, Celia P.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (01) : 102 - 110
  • [5] WHO Child Growth Standards based on length/height, weight and age
    de Onis, Mercedes
    Martorell, Reynaldo
    Garza, Cutberto
    Lartey, Anna
    [J]. ACTA PAEDIATRICA, 2006, 95 : 76 - 85
  • [6] Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
    Heilstedt, HA
    Ballif, BC
    Howard, LA
    Lewis, RA
    Stal, S
    Kashork, CD
    Bacino, CA
    Shapira, SK
    Shaffer, LG
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) : 1200 - 1212
  • [7] 1p36 deletion syndrome: an update
    Jordan, Valeie K.
    Zaveri, Hitisha P.
    Scott, Daryl A.
    [J]. APPLICATION OF CLINICAL GENETICS, 2015, 8 : 189 - 200
  • [8] Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome
    Kang, S-H L.
    Scheffer, A.
    Ou, Z.
    Li, J.
    Scaglia, F.
    Belmont, J.
    Lalani, Sr
    Roeder, E.
    Enciso, V.
    Braddock, S.
    Buchholz, J.
    Vacha, S.
    Chinault, A. C.
    Cheung, S. W.
    Bacino, C. A.
    [J]. CLINICAL GENETICS, 2007, 72 (04) : 329 - 338
  • [9] CHROMOSOME-1P TERMINAL DELETION - REPORT OF NEW FINDINGS AND CONFIRMATION OF 2 CHARACTERISTIC PHENOTYPES
    KEPPLERNOREUIL, KM
    CARROLL, AJ
    FINLEY, WH
    RUTLEDGE, SL
    [J]. JOURNAL OF MEDICAL GENETICS, 1995, 32 (08) : 619 - 622
  • [10] Revised IAP Growth Charts for Height, Weight and Body Mass Index for 5- to 18-year-old Indian Children
    Khadilkar, Vaman
    Yadav, Sangeeta
    Agrawal, K. K.
    Tamboli, Suchit
    Banerjee, Monidipa
    Cherian, Alice
    Goyal, Jagdish P.
    Khadilkar, Anuradha
    Kumaravel, V.
    Mohan, V.
    Narayanapa, D.
    Ray, I.
    Yewale, Vijay
    [J]. INDIAN PEDIATRICS, 2015, 52 (01) : 47 - 55
12