BACKGROUND: The Cut Homeobox 1 (CUX1) gene has been implicated in a number of developmental processes and has recently emerged as an important cause of developmental delay and impaired intellectual development. Individuals with variants in CUX1 have been described with a variety of co-morbidities including variations in sex development (VSD) although these features have not been closely documented.
METHODS: The proband is a 14-year-old male who presented with congenital complex hypospadias, neurodevelopmental differences, and subtle dysmorphism. A family history of neurodevelopmental differences and VSD was noted. Microarray testing and whole exome sequencing found the 46,XY proband had a large heterozygous in-frame deletion of exons 4-10 of the CUX1 gene.
CONCLUSIONS: Our review of the literature has revealed that variants in CUX1 are associated with a range of VSD and suggest this gene should be considered in cases where a VSD is noted at birth, especially if there is a familial history of VSD and/or neurodevelopmental differences. Further work is required to fully investigate the role and regulation of CUX1 in sex development.

BACKGROUND: For patients with large and deep-seated recurrent complex pilonidal sinuses, the use of traditional open excision or flap reconstruction surgery may lead to high surgical difficulty, significant local damage, numerous complications, slow healing, and a high risk of recurrence. This article reports a case of recurrent complex pilonidal sinus and discusses the advantages of Bascom II combined with VSD treatment involving the preservation of tissue bridges.
METHODS: The patient, a 31-year-old male, presented with recurrent swelling, pain, and purulent discharge from the sacrococcygeal region for over a year. Upon physical examination, extensive lumps and sinus tracts were observed in the lumbosacral tail area, with the lesion extending from L4 to the tip of the coccyx. Under general anesthesia, a segmental resection was performed, and the lumbosacral mass lesion was excised, preserving normal tissue bridges. The mature sinus tract at the upper part of the coccyx was removed, and Bascom II reconstruction surgery was performed. In the late stage at the site of lumbar sacral lesion excision, VSD was applied to promote wound healing.
CONCLUSIONS: The combination of Bascom II with lesion tunnel-like removal can reduce the damage, elevate gluteal cleft, and lower the recurrence rate. Subsequently, with the addition of VSD, it can accelerate the elimination of necrotic tissue, reduce infection risk, and expedite wound healing.
CONCLUSIONS: This case explores the advantages and characteristics of combining various techniques in the treatment of recurrent complex pilonidal sinuses, emphasizes the utility of VSD as an adjunctive therapy for large lesions.

We present prenatal diagnosis and molecular cytogenetic analysis of mosaic small supernumerary marker chromosome 1 [sSMC(1)]. We review the literature of sSMC(1) at amniocentesis and chromosome 1p21.1-p12 duplication syndrome. We discuss the genotype-phenotype correlation of the involved genes of ALX3, RBM15, NTNG1, SLC25A24, GPSM2, TBX15 and NOTCH2 in this case.

We present prenatal diagnosis of de novo 22q11.2 microdeletion syndrome using uncultured amniocytes in a pregnancy with conotruncal heart malformations in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TBX1, COMT, UFD1L, GNB1L and MED15 in the deleted region. We review the literature of chromosomal loci and genes responsible for conotruncal heart malformations and tetralogy of Fallot.