microdeletion

Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)
Sabrina Talukdar, Lara Hawkes, Helen Hanson, Anjana Kulkarni, Angela F Brady, Dominic J McMullan, Joo Wook Ahn, Emma Woodward, Clare Turnbull

Journal of Medical Genetics Nov 2019, 56 (11) 718-726; DOI: 10.1136/jmedgenet-2018-105820
CTCF deletion syndrome: clinical features and epigenetic delineation
Ikumi Hori, Rie Kawamura, Kazuhiko Nakabayashi, Hidetaka Watanabe, Ken Higashimoto, Junko Tomikawa, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Yoshitsugu Sugio, Keiko Wakui, Kenichiro Hata, Hidenobu Soejima, Kenji Kurosawa, Shinji Saitoh

Journal of Medical Genetics Dec 2017, 54 (12) 836-842; DOI: 10.1136/jmedgenet-2017-104854
A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges
Jaime Vengoechea, Christine Tallo

Journal of Medical Genetics Oct 2017, 54 (10) 682-684; DOI: 10.1136/jmedgenet-2017-104690

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