Biomaterial Database

Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report. 2022

Jincheng Dai, and Jun Zeng, and Hongxi Tan, and Xiangsheng Cai, and Benqing Wu

Department of Paediatrics, University of Chinese Academy of Sciences-Shenzhen Hospital, Jinan University, Guangzhou, China.

The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes. This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, microcephaly, polydactyly, a heart abnormality, and feeding difficulties. An approximately 12.00 MB deletion was detected in the 8p11.22-p21.2 region of chromosome 8. After sequencing, we found that 65 protein genes had been deleted, including FGFR1, which resulted in Kallmann syndrome. There was no deletion of the ANK1 gene associated with spherocytosis, consistent with the phenotype. This patient is a new case of short arm deletion of chromosome 8, resulting in novel and previously unreported clinical features.

UI	MeSH Term	Description	Entries
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002892	Chromosomes, Human, Pair 22	A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.	Chromosome 22
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013103	Spherocytosis, Hereditary	A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.	Hereditary Spherocytoses,Spherocytoses, Hereditary
D017436	Kallmann Syndrome	A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.	Anosmic Hypogonadism,Anosmic Idiopathic Hypogonadotropic Hypogonadism,Autosomal Dominant Form of Kallmann Syndrome,Autosomal Recessive Form of Kallmann Syndrome,Dysplasia Olfactogenitalis of De Morsier,Hypogonadotropic Hypogonadism and Anosmia,Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion),Hypogonadotropic Hypogonadism-Anosmia Syndrome,Kallmann Syndrome 1,Kallmann Syndrome 2,Kallmann Syndrome 3,Kallmann Syndrome, Type 1, X-linked,Kallmann Syndrome, Type 3, Recessive,Kallmann's Syndrome,Anosmic Hypogonadisms,Hypogonadism, Anosmic,Hypogonadisms, Anosmic,Kallmanns Syndrome,Syndrome, Kallmann,Syndrome, Kallmann's
D025063	Chromosome Disorders	Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)	Autosomal Chromosome Disorders,Chromosome Abnormality Disorders,Chromosomal Disorders,Autosomal Chromosome Disorder,Chromosomal Disorder,Chromosome Abnormality Disorder,Chromosome Disorder,Chromosome Disorder, Autosomal,Chromosome Disorders, Autosomal,Disorder, Chromosomal,Disorder, Chromosome,Disorder, Chromosome Abnormality,Disorders, Chromosomal,Disorders, Chromosome