Cri-du-Chat syndrome (CDCS) is a rare genetic disorder caused by a partial deletion of the short arm of chromosome 5, and it is characterized by craniofacial dysmorphism, severe intellectual disability, and behavioral challenges. Anesthetic management in adults with CDCS is rarely reported, as the literature mostly focuses on pediatric cases. We describe the case of a 34-year-old male with CDCS who was scheduled for periodontal surgery under general anesthesia; he refused all pharmacological premedication and exhibited severe separation anxiety. A caregiver-guided behavioral approach using repetitive familiar phrases enabled a calm transfer to the operating room and successful intravenous access. Anticipating a difficult airway due to micrognathia, macroglossia, and a high Mallampati score (III), nasotracheal intubation was achieved uneventfully. Anesthesia was maintained with sevoflurane and opioid-free analgesia. Recovery was smooth, and same-day discharge was accomplished. This report emphasizes the importance of non-pharmacological preparation, meticulous airway planning, and fast-track anesthetic strategies in adult CDCS patients who cannot tolerate conventional premedication.

Cri Du Chat Syndrome (CdCS) is an autosomal genetic disorder involving the complete or partial deletion of the short arm of chromosome 5 (5p). The size of the CdCS deletion ranges from approximately 10-45 Mb. Female patient, one year and three months old, presents hyperextension of the knees. On physical examination, the patient presents bilateral cleft palate, absence of soft palate, cleft lip and tracheostomy, positive Hart sign, negative Peter Bade sign and fixed retrocurved knees with limited range of motion. Radiographs reveal bilateral hip dislocation and knee dislocation. Karyotype analysis confirms the diagnosis of CdCS. Surgery was performed to laterally release the knee joint capsule, lengthen the quadriceps tendon, capsuloplasty and closed reduction of the knee joint, followed by application of a co-pediatric plaster with knee flexion. After two months in a cast, physiotherapy was started. Approximately three months after surgery, the patient presented a healed surgical incision, full knee extension and almost complete flexion (100° flexion), in addition to a negative Lachmann test. The presence of multiple congenital anomalies constitutes an exceptionally unique clinical picture. It is crucial to emphasize that congenital dislocation of the hips and knees in this patient is particularly rare and has not been described in the medical literature among CdCS patients. El síndrome de Cri Du Chat (CdCS) es un trastorno genético autosómico que implica la deleción total o parcial del brazo corto del cromosoma 5 (5p). El tamaño de la deleción de CdCS varía de aproximadamente 10 a 45 Mb. Paciente femenina de un año y tres meses de edad, presenta hiperextensión de rodillas. Al examen físico el paciente presenta paladar hendido bilateral, ausencia de paladar blando, labio hendido y traqueotomía, signo de Hart positivo, signo de Peter Bade negativo y rodillas fijas retrocurvadas con rango de movimiento limitado. Las radiografías revelan luxación bilateral de cadera y luxación de rodilla. El análisis de cariotipo confirma el diagnóstico de CdCS. Se realizó cirugía para liberación lateral de la cápsula articular de la rodilla, alargamiento del tendón del cuádriceps, capsuloplastia y reducción cerrada de la articulación de la rodilla, seguida de aplicación de un apósito copediátrico con flexión de la rodilla. Después de dos meses enyesado, se inició fisioterapia. Aproximadamente tres meses después de la cirugía, el paciente presentó una incisión quirúrgica cicatrizada, extensión completa de la rodilla y flexión casi completa (100° de flexión), además de una prueba de Lachmann negativa. La presencia de múltiples anomalías congénitas constituye un cuadro clínico excepcionalmente único. Es crucial enfatizar que la luxación congénita de caderas y rodillas en este paciente es particularmente rara y no se ha descrito en la literatura médica entre pacientes con CdCS.

Cri-du-chat syndrome (CDC, OMIM 123450) is a rare chromosomal syndrome that results from partial deletions on the short arm of chromosome 5, known as 5p minus. Substantial clinical and genetic heterogeneity were observed in CDC patients. Large efforts have been dedicated to correlating the deleted regions on 5p arm with observed symptoms in CDC patients. However, the genetic basis of many specific phenotypes, including the co-occurrence of Hirschsprung Disease (HSCR), have yet been clarified. Here, we conducted a study on two patients with CDC and HSCR using whole genome sequencing (WGS) analyses. Our WGS data confirmed the deletion regions on 5p associated with CDC and indicated potential unknown genetic mechanisms underlying HSCR. On the one hand, leveraging human single-cell atlas for developing enteric nervous system, we demonstrated that some affected genes in these two patients overlapped with those showing expression changes along the development pseudotime of enteric nervous cells (ENC) and overlapped with known HSCR genes including RET, NRG1, ERBB (ERBB2 and ERBB3), ITGB (ITGB1). On the other hand, integrating gene regulatory relationship estimated from single cell chromatin accessibility omics of enteric neurons, we found that the 5p deletion regions contained key cis-regulatory regions for HSCR-related gene GDNF. Taken together, our study reveals the genetic basis of HSCR or intestinal phenotypes in 5p minus patients, highlighting the importance of studying gene regulatory relationships to explain phenotypic heterogeneity.

Cri du chat syndrome (CdCS), also known as 5p deletion syndrome (5p-) is a syndrome caused by partial deletion of the 5p chromosome in human beings. The incidence accounts for 1/50000 and the cause of CdCS is related to partial deletion of chromosome 5 short arm (p). CdCS is a sporadic event. Only one case of CdCS was detected by chromosome screening in 125 and 170 pregnant Iranian women[1]. The most prominent clinical manifestations of CdCS are typical high-pitched cat calls, severe mental retardation or mental retardation and is most harmful to both language and growth retardation[2]. CdCS is a chromosome mutation disease which occurs during embryonic development and the symptoms of some cases are extremely atypical. It is difficult to make an early diagnosis and screening in clinic. We can suspect the disease from its atypical manifestations in the weak crying of cats, and chromosome karyotype analysis can find some questionable gene deletion fragments to assist the clinical diagnosis and prognosis of CdCS. A 2-d-old male child who was admitted to our hospital with a poor postnatal reaction and poor milk intake. The baby's crying and sucking is weak, reaction and feeding time is poor and the baby has nausea and vomiting. Karyotype analysis showed that the chromosomes were 46, XY, deletion (5) p15. Whole genome microarray analysis (named ISCN2013) showed that the chromosomes of the child were male karyotypes and contained three chromosomal abnormalities. Among them, loss of 5p15.2pter (113576-13464559) was associated with cat call syndrome. After 3 mo of follow-up, the child still vomited repeatedly, had poor milk intake, did not return to normal growth, had developmental retardation and a poor directional response. Therefore, when cat crying and laryngeal sounds occur in the neonatal period, it should be considered that they are related to CdCS. Chromosome karyotype and genome analysis are helpful for the diagnosis of CdCS.

Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced translocation gamete with a normal gamete, the partial monosomy or partial trisomy embryo will undergo abortion, fetal arrest or fetal malformations. We reported a woman with chromosomal balanced translocation who had two adverse pregnancies. Prenatal diagnosis was made for her third pregnancy to provide genetic counseling and guide her fertility. We presented a woman with chromosomal balanced translocation who had three adverse pregnancies. Routine G banding and CNV-seq were used to analyze the chromosome karyotypes and copy number variants of amniotic fluid cells and peripheral blood. The karyotype of the woman was 46,XX,t(4;5)(q33;p15). During her first pregnancy, odinopoeia was performed due to fetal edema and abdominal fluid. The umbilical cord tissue of the fetus was examined by CNV-seq. The results showed a genomic gain of 24.18 Mb at 4q32.3-q35.2 and a genomic deletion of 10.84 Mb at 5p15.2-p15.33 and 2.36 Mb at 15q11.1-q11.2. During her second pregnancy, she did not receive a prenatal diagnosis because a routine prenatal ultrasound examination found no abnormalities. In 2016, she gave birth to a boy. The karyotype the of the boy was 46,XY,der(5)t(4;5)(q33;p15)mat. The results of CNV-seq showed a deletion of short arm of chromosome 5 capturing regions 5p15.2-p15.33, a copy gain of the distal region of chromosome 4 at segment 4q32.3q35.2, a duplication of chromosome 1 at segment 1q41q42.11 and a duplication of chromosome 17 at segment 17p12. During her third pregnancy, she underwent amniocentesis at 17 weeks of gestation. Chromosome karyotype hinted 46,XY,der(5)t(4;5)(q33;p15)mat. Results of CNV-seq showed a deletion of short arm (p) of chromosome 5 at the segment 5p15.2p15.33 and a duplication of the distal region of chromosome 4 at segment 4q32.3q35.2. Chromosomal abnormalities in three pregnancies were inherited from the mother. Preimplantation genetic diagnosis is recommended to prevent the birth of children with chromosomal abnormalities.