2011年7月14日 · 1p36 Deletion Support & Awareness is proud to unveil a brand new logo! Starting with the 201...

Purpose of Policy: To insure that 1p36 Deletion Support & Awareness’s logo is properly used. The logo reflects the organization’s image and character. Use of the logo should always be for the purpose of furthering the organization’s mission.

1p36 deletion syndrome occurs in approximately 1 in 5,000 to 10,000 live births and 1p36 Deletion Support & Awareness is honored to currently serve hundreds of families affected by this rare genetic disorder. We strive to reach the thousands more who live without a diagnosis and/or are unaware of support available to them.

1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.

The 1p36 Family Trust is a registered charity devoted to supporting children and adults affected by 1P36 Deletion Syndrome and their families in the UK, by arranging conferences to share research and best practises concerning management of symptoms, treatment and also sharing educational content about 1P36 Deletion Syndrome.

1p36缺失综合征是由1号染色体短臂的最远端光带缺失引起的先天性遗传性疾病。 染色体1是最大的人类染色体，占人类细胞总DNA的约8％。 “p”代表染色体的短臂或“小”臂。

罹患 1p36 缺失症候群 的儿童都会具有中度至重度智能障碍。 多数儿童也具有心脏缺陷，可能需要接受手术或医疗服务。 某些儿童可能会需要接受物理或职能疗法以协助解决肌肉张力不足的问题。 大约半数罹患1p36 缺失症候群的儿童都具有癫痫及/或行为问题；某些则具有听觉及/或视觉丧失问题。 3. 猫哭症候群：此疾病大约每 20,000 名新生儿就有 1 名罹患病例。 胎儿通常在出生时的体型、大脑和头部的尺寸较小。 这些胎儿具有喂食和呼吸困难问题，需要额外的医疗照护。 罹患 …

2023年8月5日 · 1p36缺失综合征是由1号染色体短臂的最远端光带缺失引起的先天性遗传性疾病。 染色体1是最大的人类染色体，占人类细胞总DNA的约8%。 “p”代表染色体的短臂或“小”臂。

2018年9月18日 · 染色体1p/19q联合缺失是指1号染色体短臂和19号染色体长臂同时缺失，最早发现于少突胶质细胞瘤样本中。 1p/19q联合缺失在少突胶质细胞瘤中的发生率为80%-90%，在间变性少突胶质细胞瘤中发生率为50%-70%，在弥漫性星形细胞瘤中发生率为15%，而在胶质母细胞瘤中发生率仅5%。 目前认为1p/19q联合缺失是少突胶质细胞瘤的分子特征，是其诊断性分子标志物。 通常对疑似少突胶质细胞瘤或混合性少突星形细胞瘤均应进行1p/19q联合性缺失的检测， …

The 1p36 Deletion Support & Awareness annual conferences are for families and caregivers of children with 1p36 deletion syndrome. We also welcome physicians, therapists and teachers who want to learn more about 1p36 deletion syndrome.