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Fig. 1 | Molecular Cytogenetics

Fig. 1

From: Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report

Fig. 1

Consanguineous family analysis and phenotypes of patients with globozoospermia. a. Consanguineous pedigree of the proband family with complete deletion ofDPY19L2. The patient (II:1) was suffering from globozoospermia had homozygous deletion of exons 1, 11 and 22 of DPY19L2. And heterozygous deletion in exons 1, 11, 22 of DPY19L2 in mother of proband (I:2), while no mutation was found in exons 1, 11 and 22 of DPY19L2 of his father (I:1). b. Papanicolaou staining of sperm cells from normal control and the proband globozoospermia. Black arrows indicate spermatozoa from globozoospermia. Scale bar: 20 μm. c. Ultrastructure of the Sperm from normal control and patient with complete loss of DPY19L2 showing that the DPY19L2-null spermatozoa had round sperm head. The black arrow indicates the head of normal control sperm and the head of DPY19L2 completely missing sperm.

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