Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d‐transposition of the great arteries by Kazutoyo Osoegawa, Kathleen Schultz, Kenneth Yun, Nebil Mohammed, Gary M. Shaw, Edward J. Lammer

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THE FREQUENCY OF Y CHROMOSOME MICRODELETIONS AND CYTOGENETIC ABNORMALITIES IN CASES WITH MALE INFERTILITY FROM THRACE REGION: SINGLE CENTER EXPERIENCE by Sinem Yalçıntepe, Damla Eker, Hakan Gürkan

Subjects: “…y microdeletion…”
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Y-Chromosomal Microdeletion in Idiopathic Azoospermic and Severe Oligozoospermic Indonesian Men by Ponco Birowo, Donny Eka Putra, Mewahyu Dewi, Nur Rasyid, Akmal Taher

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Y-Chromosomal Microdeletion in Idiopathic Azoospermic and Severe Oligozoospermic Indonesian Men by Ponco Birowo, Donny Eka Putra, Mewahyu Dewi, Nur Rasyid, Akmal Taher

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Investigational Management for a Positive NIPT Result - Case Report by Elena Evelina STOICA, Laurentiu Camil BOHILTEA, Delia-Maria Gradinaru-FOMETESCU, Monica Mihaela CIRSTOIU

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Frequency of Y chromosome Microdeletions in Turkish Infertile Men: Single Center Experience by Aysel Kalaycı Yiğin, Mehmet Seven, Deniz Ağırbaşlı, Gizem Erdoğan Erdur

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Maternal Transmission of 17q12 Microdeletion: Intrafamilial Phenotypic Variability and Diagnostic Hurdles—A Case Report by Susanna Negrisolo, Gianluca Caridi, Benedetta Antoniello, Elisa Benetti

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Small Intestinal Neurofibroma With Atypical 17q11.2 Microdeletions: A Rare Cause of Abdominal Distension by Yating Wang, Chunwei He, Dedong Ma, Leiqi Xu

Subjects: “…17q11.2 microdeletion…”
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A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis by Can Aydın, Eylem Kıral, Ezgi Susam, Aslı Kavaz Tufan, Coskun Yarar, Nuran Çetin, Sinem Kocagil, Birgül Kırel

Subjects: “…17q12 microdeletion…”
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Study on the influence of the sY1192 gene locus in the AZFb/c region on sperm quality and pregnancy outcome by Gang-Xin Chen, Yan Sun, Rui Yang, Zhi-Qing Huang, Hai-Yan Li, Bei-Hong Zheng

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3q29 microdeletion syndrome associated with developmental delay and pulmonary stenosis: a case report by Duygu Kaba, Zerrin Yılmaz Çelik

Subjects: “…3q29 microdeletion syndrome…”
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The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort by Meng Meng, Jianping Chen, Yingjun Yang, Yun Zhang, Gang Zou, Fenhe Zhou, Xing Wei, Yuchun Ge, Jia Zhou, Luming Sun

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A non-fasting marker of metabolic syndrome in a high-risk population by Sabrina Cancelliere, Tracy Heung, Christina Blagojevic, Sarah Malecki, Satya Dash, Anne S. Bassett

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A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia by Xinpeng Guo, Xinpeng Guo, Xinpeng Guo, Junrong Guo, Junrong Guo, Xijing Liu, Xijing Liu, Ting Hu, Ting Hu

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Intact spermatogenesis in an azoospermic patient with AZFa (sY84 and sY86) microdeletion and a homozygous TG12-5T variant in CFTR by Yifan Sun, Beifen Zhong, Zizhou Meng, Yuxiang Zhang, Zheng Li, Chencheng Yao

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Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith–Wiedemann syndrome by Qiliang Ding, Zinandre Stander, Brandon J. Elizalde, Erica S. Stelmach, Jaime C. Duncan, Noemi Vidal-Folch, Linda Hasadsri, Kandelaria M. Rumilla, Wei Shen

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Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 ‐Related Disorder and Further Refine INSYN2A Involvement in the Postnatal... by Jiasun Su, Shujie Zhang, Wei Li, Yuan Wei, Fei Lin, Chaofan Zhou, Xianglian Tang, Yueyun Lan, Minpan Huang, Qiang Zhang, Shang Yi, Qi Yang, Sheng Yi, Xunzhao Zhou, Zailong Qin, Peng Huang

Subjects: “…10q26 microdeletion syndrome…”
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Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis by Na Zhang, Nan Huang, Yu’e Chen, Xinying Chen, Jianlong Zhuang

Subjects: “…10p15.3 Microdeletion syndrome…”
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Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review by Liqing Jiang, Liqing Jiang, Liqing Jiang, Jiaqi Li, Aizhong Han, Aizhong Han, Aizhong Han, Fei Hou, Fei Hou, Fei Hou, Xiaotong Wei, Yanjun Tian, Yanjun Tian, Yanjun Tian

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Impact of AZFc deletion subtypes on sperm retrieval rates via micro-TESE and ICSI outcomes in non-obstructive azoospermia patients by Yanqing Xia, Ke Feng, Xiaowei Qu, Feng Wan, Cuilian Zhang, Haibin Guo

Subjects: “…Y chromosome microdeletion…”
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